Canonical Allele Identifier: CA5036256

Gene: GALT

Linked Data

• dbSNP Id: rs369090791
• ExAC: 9:34649409 G / A
• gnomAD v2: 9-34649409-G-A
• gnomAD v3: 9-34649412-G-A
• gnomAD v4: 9-34649412-G-A
• MyVariant Identifiers: chr9:g.34649409G>A (hg19) ; chr9:g.34649412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649412G>A , CM000671.2:g.34649412G>A	GRCh38
NC_000009.11:g.34649409G>A , CM000671.1:g.34649409G>A	GRCh37
NC_000009.10:g.34639409G>A	NCBI36
NG_009029.1:g.7775G>A
NG_028966.1:g.2228G>A
NG_009029.2:g.7824G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*495G>A	ENSP00000509954.1:n.*495G>A
ENST00000378842.8:c.907G>A MANE Select	ENSP00000368119.4:p.Ala303Thr
ENST00000378842.7:c.907G>A	ENSP00000368119.3:p.Ala303Thr
ENST00000450095.6:c.580G>A	ENSP00000401956.2:p.Ala194Thr
ENST00000488412.2:n.491G>A
ENST00000489643.6:n.1315G>A
ENST00000554550.5:c.*527G>A	ENSP00000451435.1:n.*527G>A
ENST00000554638.5:n.1379G>A
ENST00000555020.5:n.1696G>A
ENST00000555754.1:n.355G>A
ENST00000556278.1:c.432+956G>A	ENSP00000451792.1:n.432+956G>A
ENST00000557706.5:n.1482G>A
NM_000155.3:c.907G>A	NP_000146.2:p.Ala303Thr
NM_001258332.1:c.580G>A	NP_001245261.1:p.Ala194Thr
NM_000155.4:c.907G>A MANE Select	NP_000146.2:p.Ala303Thr
NM_001258332.2:c.580G>A	NP_001245261.1:p.Ala194Thr