Canonical Allele Identifier: CA259419

Gene: GALT

Linked Data

• dbSNP Id: rs111033839
• gnomAD v4: 9-34648116-T-C
• MyVariant Identifiers: chr9:g.34648113T>C (hg19) ; chr9:g.34648116T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648116T>C , CM000671.2:g.34648116T>C	GRCh38
NC_000009.11:g.34648113T>C , CM000671.1:g.34648113T>C	GRCh37
NC_000009.10:g.34638113T>C	NCBI36
NG_009029.1:g.6479T>C
NG_028966.1:g.932T>C
NG_009029.2:g.6528T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*97T>C	ENSP00000509954.1:n.*97T>C
ENST00000378842.8:c.509T>C MANE Select	ENSP00000368119.4:p.Ile170Thr
ENST00000378842.7:c.509T>C	ENSP00000368119.3:p.Ile170Thr
ENST00000450095.6:c.182T>C	ENSP00000401956.2:p.Ile61Thr
ENST00000465543.6:n.848T>C
ENST00000472111.5:n.765T>C
ENST00000473506.6:c.*97T>C	ENSP00000432839.2:n.*97T>C
ENST00000473529.5:n.668T>C
ENST00000485531.1:n.1103T>C
ENST00000487381.5:n.894T>C
ENST00000489643.6:n.284T>C
ENST00000554085.5:c.*253T>C	ENSP00000450419.1:n.*253T>C
ENST00000554139.5:n.755T>C
ENST00000554550.5:c.*129T>C	ENSP00000451435.1:n.*129T>C
ENST00000554638.5:n.981T>C
ENST00000554897.5:c.*196T>C	ENSP00000450942.1:n.*196T>C
ENST00000554944.5:n.858T>C
ENST00000555020.5:n.665T>C
ENST00000555086.5:n.513T>C
ENST00000555214.5:n.330T>C
ENST00000556244.1:c.496T>C
ENST00000556278.1:c.254T>C	ENSP00000451792.1:p.Ile85Thr
ENST00000556494.5:n.630T>C
ENST00000557706.5:n.1071T>C
NM_000155.3:c.509T>C	NP_000146.2:p.Ile170Thr
NM_001258332.1:c.182T>C	NP_001245261.1:p.Ile61Thr
NM_000155.4:c.509T>C MANE Select	NP_000146.2:p.Ile170Thr
NM_001258332.2:c.182T>C	NP_001245261.1:p.Ile61Thr