Canonical Allele Identifier: CA504895129

Gene: GAMT

Linked Data

• gnomAD v4: 19-1398976-G-A
• MyVariant Identifiers: chr19:g.1398975G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398976G>A , CM000681.2:g.1398976G>A	GRCh38
NC_000019.9:g.1398975G>A , CM000681.1:g.1398975G>A	GRCh37
NC_000019.8:g.1349975G>A	NCBI36
NG_009785.1:g.7578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.510C>T MANE Select	ENSP00000252288.1:p.Asn170=
ENST00000447102.8:c.510C>T	ENSP00000403536.2:p.Asn170=
ENST00000591788.3:c.193C>T
ENST00000640164.1:n.343C>T
ENST00000640762.1:c.441C>T	ENSP00000492031.1:p.Asn147=
ENST00000252288.6:c.510C>T	ENSP00000252288.1:p.Asn170=
ENST00000447102.7:c.510C>T	ENSP00000403536.2:p.Asn170=
ENST00000591788.2:c.195C>T	ENSP00000466341.2:p.Asn65=
NM_000156.5:c.510C>T	NP_000147.1:p.Asn170=
NM_138924.2:c.510C>T	NP_620279.1:p.Asn170=
NM_000156.6:c.510C>T MANE Select	NP_000147.1:p.Asn170=
NM_138924.3:c.510C>T	NP_620279.1:p.Asn170=