Canonical Allele Identifier: CA259317

Gene: GALT

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646786G>C , CM000671.2:g.34646786G>C	GRCh38
NC_000009.11:g.34646783G>C , CM000671.1:g.34646783G>C	GRCh37
NC_000009.10:g.34636783G>C	NCBI36
NG_009029.1:g.5149G>C
NG_009029.2:g.5198G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.82G>C	ENSP00000509954.1:p.Asp28His
ENST00000378842.8:c.82G>C MANE Select	ENSP00000368119.4:p.Asp28His
ENST00000378842.7:c.82G>C	ENSP00000368119.3:p.Asp28His
ENST00000450095.6:c.-121G>C	ENSP00000401956.2:n.-121G>C
ENST00000465543.6:n.119G>C
ENST00000468099.2:n.154G>C
ENST00000472111.5:n.123G>C
ENST00000473506.6:c.82G>C	ENSP00000432839.2:p.Asp28His
ENST00000473529.5:n.129G>C
ENST00000487381.5:n.108G>C
ENST00000489643.6:n.112G>C
ENST00000554085.5:c.82G>C	ENSP00000450419.1:p.Asp28His
ENST00000554139.5:n.135G>C
ENST00000554550.5:c.82G>C	ENSP00000451435.1:p.Asp28His
ENST00000554638.5:n.106G>C
ENST00000554897.5:c.82G>C	ENSP00000450942.1:p.Asp28His
ENST00000554944.5:n.112G>C
ENST00000555020.5:n.112G>C
ENST00000555086.5:n.5G>C
ENST00000555214.5:n.91G>C
ENST00000556278.1:c.82G>C	ENSP00000451792.1:p.Asp28His
ENST00000556403.5:n.14G>C
ENST00000557541.5:n.142G>C
ENST00000605275.1:n.318G>C
NM_000155.3:c.82G>C	NP_000146.2:p.Asp28His
NM_001258332.1:c.-121G>C	NP_001245261.1:n.-121G>C
NM_000155.4:c.82G>C MANE Select	NP_000146.2:p.Asp28His
NM_001258332.2:c.-121G>C	NP_001245261.1:n.-121G>C