Canonical Allele Identifier: CA402998378
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401433-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401433T>C , CM000681.2:g.1401433T>C GRCh38
NC_000019.9:g.1401432T>C , CM000681.1:g.1401432T>C GRCh37
NC_000019.8:g.1352432T>C NCBI36
NG_009785.1:g.5121A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.44A>G MANE Select ENSP00000252288.1:p.Asn15Ser
ENST00000447102.8:c.44A>G ENSP00000403536.2:p.Asn15Ser
ENST00000640762.1:c.44A>G ENSP00000492031.1:p.Asn15Ser
ENST00000252288.6:c.44A>G ENSP00000252288.1:p.Asn15Ser
ENST00000447102.7:c.44A>G ENSP00000403536.2:p.Asn15Ser
NM_000156.5:c.44A>G NP_000147.1:p.Asn15Ser
NM_138924.2:c.44A>G NP_620279.1:p.Asn15Ser
NM_000156.6:c.44A>G MANE Select NP_000147.1:p.Asn15Ser
NM_138924.3:c.44A>G NP_620279.1:p.Asn15Ser