Canonical Allele Identifier: CA368845824
Gene: SLC26A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107350568T>G (hg19) chr7:g.107710123T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710123T>G , CM000669.2:g.107710123T>G GRCh38
NC_000007.13:g.107350568T>G , CM000669.1:g.107350568T>G GRCh37
NC_000007.12:g.107137804T>G NCBI36
NG_008489.1:g.54489T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2159T>G MANE Select ENSP00000494017.1:p.Leu720Trp
ENST00000644846.1:c.815T>G
ENST00000265715.7:c.2159T>G ENSP00000265715.3:p.Leu720Trp
ENST00000492030.2:n.377-32T>G
NM_000441.1:c.2159T>G NP_000432.1:p.Leu720Trp
XM_005250425.1:c.2159T>G XP_005250482.1:p.Leu720Trp
XM_005250425.2:c.2159T>G XP_005250482.1:p.Leu720Trp
XM_017012318.1:c.2081T>G XP_016867807.1:p.Leu694Trp
NM_000441.2:c.2159T>G MANE Select NP_000432.1:p.Leu720Trp
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