Canonical Allele Identifier: CA373282162

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648404A>C (hg19) ; chr9:g.34648407A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648407A>C , CM000671.2:g.34648407A>C	GRCh38
NC_000009.11:g.34648404A>C , CM000671.1:g.34648404A>C	GRCh37
NC_000009.10:g.34638404A>C	NCBI36
NG_009029.1:g.6770A>C
NG_028966.1:g.1223A>C
NG_009029.2:g.6819A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*226A>C	ENSP00000509954.1:n.*226A>C
ENST00000378842.8:c.638A>C MANE Select	ENSP00000368119.4:p.His213Pro
ENST00000378842.7:c.638A>C	ENSP00000368119.3:p.His213Pro
ENST00000450095.6:c.311A>C	ENSP00000401956.2:p.His104Pro
ENST00000472111.5:n.894A>C
ENST00000473506.6:c.*226A>C	ENSP00000432839.2:n.*226A>C
ENST00000473529.5:n.797A>C
ENST00000487381.5:n.1023A>C
ENST00000489643.6:n.413A>C
ENST00000554085.5:c.*382A>C	ENSP00000450419.1:n.*382A>C
ENST00000554550.5:c.*258A>C	ENSP00000451435.1:n.*258A>C
ENST00000554638.5:n.1110A>C
ENST00000555020.5:n.794A>C
ENST00000555086.5:n.642A>C
ENST00000555214.5:n.459A>C
ENST00000556244.1:c.625A>C
ENST00000556278.1:c.383A>C	ENSP00000451792.1:p.His128Pro
ENST00000556494.5:n.759A>C
ENST00000557706.5:n.1200A>C
NM_000155.3:c.638A>C	NP_000146.2:p.His213Pro
NM_001258332.1:c.311A>C	NP_001245261.1:p.His104Pro
NM_000155.4:c.638A>C MANE Select	NP_000146.2:p.His213Pro
NM_001258332.2:c.311A>C	NP_001245261.1:p.His104Pro