Canonical Allele Identifier: CA402993884

Gene: GAMT

Linked Data

• gnomAD v4: 19-1398906-G-A
• MyVariant Identifiers: chr19:g.1398905G>A (hg19) ; chr19:g.1398906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398906G>A , CM000681.2:g.1398906G>A	GRCh38
NC_000019.9:g.1398905G>A , CM000681.1:g.1398905G>A	GRCh37
NC_000019.8:g.1349905G>A	NCBI36
NG_009785.1:g.7648C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+10C>T MANE Select	ENSP00000252288.1:n.570+10C>T
ENST00000447102.8:c.580C>T	ENSP00000403536.2:p.Pro194Ser
ENST00000591788.3:c.253+10C>T
ENST00000640164.1:n.403+10C>T
ENST00000640762.1:c.501+10C>T	ENSP00000492031.1:n.501+10C>T
ENST00000252288.6:c.570+10C>T	ENSP00000252288.1:n.570+10C>T
ENST00000447102.7:c.580C>T	ENSP00000403536.2:p.Pro194Ser
ENST00000591788.2:c.255+10C>T	ENSP00000466341.2:n.255+10C>T
NM_000156.5:c.570+10C>T	NP_000147.1:n.570+10C>T
NM_138924.2:c.580C>T	NP_620279.1:p.Pro194Ser
NM_000156.6:c.570+10C>T MANE Select	NP_000147.1:n.570+10C>T
NM_138924.3:c.580C>T	NP_620279.1:p.Pro194Ser