Canonical Allele Identifier: CA373278153

Gene: GALT

Linked Data

• ClinVar Variation Id: 2979207
• ClinVar RCV Id: RCV003831837
• gnomAD v4: 9-34646705-A-C
• MyVariant Identifiers: chr9:g.34646702A>C (hg19) ; chr9:g.34646705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646705A>C , CM000671.2:g.34646705A>C	GRCh38
NC_000009.11:g.34646702A>C , CM000671.1:g.34646702A>C	GRCh37
NC_000009.10:g.34636702A>C	NCBI36
NG_009029.1:g.5068A>C
NG_009029.2:g.5117A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.1A>C	ENSP00000509954.1:p.Met1Leu
ENST00000378842.8:c.1A>C MANE Select	ENSP00000368119.4:p.Met1Leu
ENST00000378842.7:c.1A>C	ENSP00000368119.3:p.Met1Leu
ENST00000450095.6:c.-202A>C	ENSP00000401956.2:n.-202A>C
ENST00000465543.6:n.38A>C
ENST00000468099.2:n.73A>C
ENST00000472111.5:n.42A>C
ENST00000473506.6:c.1A>C	ENSP00000432839.2:p.Met1Leu
ENST00000473529.5:n.48A>C
ENST00000487381.5:n.27A>C
ENST00000489643.6:n.31A>C
ENST00000554085.5:c.1A>C	ENSP00000450419.1:p.Met1Leu
ENST00000554139.5:n.54A>C
ENST00000554550.5:c.1A>C	ENSP00000451435.1:p.Met1Leu
ENST00000554638.5:n.25A>C
ENST00000554897.5:c.1A>C	ENSP00000450942.1:p.Met1Leu
ENST00000554944.5:n.31A>C
ENST00000555020.5:n.31A>C
ENST00000555214.5:n.10A>C
ENST00000556278.1:c.1A>C	ENSP00000451792.1:p.Met1Leu
ENST00000557541.5:n.61A>C
ENST00000605275.1:n.237A>C
NM_000155.3:c.1A>C	NP_000146.2:p.Met1Leu
NM_001258332.1:c.-202A>C	NP_001245261.1:n.-202A>C
NM_000155.4:c.1A>C MANE Select	NP_000146.2:p.Met1Leu
NM_001258332.2:c.-202A>C	NP_001245261.1:n.-202A>C