Canonical Allele Identifier: CA259474

Gene: GALT

Linked Data

• dbSNP Id: rs111033846
• MyVariant Identifiers: chr9:g.34648446T>C (hg19) ; chr9:g.34648449T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648449T>C , CM000671.2:g.34648449T>C	GRCh38
NC_000009.11:g.34648446T>C , CM000671.1:g.34648446T>C	GRCh37
NC_000009.10:g.34638446T>C	NCBI36
NG_009029.1:g.6812T>C
NG_028966.1:g.1265T>C
NG_009029.2:g.6861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*268T>C	ENSP00000509954.1:n.*268T>C
ENST00000378842.8:c.680T>C MANE Select	ENSP00000368119.4:p.Leu227Pro
ENST00000378842.7:c.680T>C	ENSP00000368119.3:p.Leu227Pro
ENST00000450095.6:c.353T>C	ENSP00000401956.2:p.Leu118Pro
ENST00000472111.5:n.936T>C
ENST00000473506.6:c.*268T>C	ENSP00000432839.2:n.*268T>C
ENST00000473529.5:n.839T>C
ENST00000487381.5:n.1065T>C
ENST00000489643.6:n.455T>C
ENST00000554085.5:c.*424T>C	ENSP00000450419.1:n.*424T>C
ENST00000554550.5:c.*300T>C	ENSP00000451435.1:n.*300T>C
ENST00000554638.5:n.1152T>C
ENST00000555020.5:n.836T>C
ENST00000555086.5:n.684T>C
ENST00000555214.5:n.501T>C
ENST00000555754.1:n.25T>C
ENST00000556244.1:c.667T>C
ENST00000556278.1:c.425T>C	ENSP00000451792.1:p.Leu142Pro
ENST00000556494.5:n.801T>C
ENST00000557706.5:n.1242T>C
NM_000155.3:c.680T>C	NP_000146.2:p.Leu227Pro
NM_001258332.1:c.353T>C	NP_001245261.1:p.Leu118Pro
NM_000155.4:c.680T>C MANE Select	NP_000146.2:p.Leu227Pro
NM_001258332.2:c.353T>C	NP_001245261.1:p.Leu118Pro