Canonical Allele Identifier: CA373284208

Gene: GALT

Linked Data

• dbSNP Id: rs111033779
• gnomAD v2: 9-34649010-T-C
• gnomAD v4: 9-34649013-T-C
• MyVariant Identifiers: chr9:g.34649010T>C (hg19) ; chr9:g.34649013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649013T>C , CM000671.2:g.34649013T>C	GRCh38
NC_000009.11:g.34649010T>C , CM000671.1:g.34649010T>C	GRCh37
NC_000009.10:g.34639010T>C	NCBI36
NG_009029.1:g.7376T>C
NG_028966.1:g.1829T>C
NG_009029.2:g.7425T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*424T>C	ENSP00000509954.1:n.*424T>C
ENST00000378842.8:c.836T>C MANE Select	ENSP00000368119.4:p.Met279Thr
ENST00000378842.7:c.836T>C	ENSP00000368119.3:p.Met279Thr
ENST00000450095.6:c.509T>C	ENSP00000401956.2:p.Met170Thr
ENST00000488412.2:n.92T>C
ENST00000489643.6:n.916T>C
ENST00000554085.5:c.*580T>C	ENSP00000450419.1:n.*580T>C
ENST00000554550.5:c.*456T>C	ENSP00000451435.1:n.*456T>C
ENST00000554638.5:n.1308T>C
ENST00000555020.5:n.1297T>C
ENST00000555086.5:n.943T>C
ENST00000555754.1:n.284T>C
ENST00000556278.1:c.432+557T>C	ENSP00000451792.1:n.432+557T>C
ENST00000557706.5:n.1411T>C
NM_000155.3:c.836T>C	NP_000146.2:p.Met279Thr
NM_001258332.1:c.509T>C	NP_001245261.1:p.Met170Thr
NM_000155.4:c.836T>C MANE Select	NP_000146.2:p.Met279Thr
NM_001258332.2:c.509T>C	NP_001245261.1:p.Met170Thr