Canonical Allele Identifier: CA1123156685

Gene: GALT

Linked Data

• dbSNP Id: rs1821115497
• gnomAD v3: 9-34646855-G-C
• gnomAD v4: 9-34646855-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646855G>C , CM000671.2:g.34646855G>C	GRCh38
NC_000009.11:g.34646852G>C , CM000671.1:g.34646852G>C	GRCh37
NC_000009.10:g.34636852G>C	NCBI36
NG_009029.1:g.5218G>C
NG_009029.2:g.5267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.82+69G>C	ENSP00000509954.1:n.82+69G>C
ENST00000378842.8:c.82+69G>C MANE Select	ENSP00000368119.4:n.82+69G>C
ENST00000378842.7:c.82+69G>C	ENSP00000368119.3:n.82+69G>C
ENST00000450095.6:c.-121+69G>C	ENSP00000401956.2:n.-121+69G>C
ENST00000465543.6:n.188G>C
ENST00000468099.2:n.154+69G>C
ENST00000472111.5:n.123+69G>C
ENST00000473506.6:c.82+69G>C	ENSP00000432839.2:n.82+69G>C
ENST00000473529.5:n.129+69G>C
ENST00000485531.1:n.11G>C
ENST00000487381.5:n.108+69G>C
ENST00000489643.6:n.112+69G>C
ENST00000554085.5:c.82+69G>C	ENSP00000450419.1:n.82+69G>C
ENST00000554139.5:n.135+69G>C
ENST00000554330.5:n.67G>C
ENST00000554550.5:c.82+69G>C	ENSP00000451435.1:n.82+69G>C
ENST00000554638.5:n.106+69G>C
ENST00000554897.5:c.82+69G>C	ENSP00000450942.1:n.82+69G>C
ENST00000554944.5:n.112+69G>C
ENST00000555020.5:n.112+69G>C
ENST00000555086.5:n.74G>C
ENST00000555214.5:n.91+69G>C
ENST00000556278.1:c.82+69G>C	ENSP00000451792.1:n.82+69G>C
ENST00000556403.5:n.83G>C
ENST00000556494.5:n.50G>C
ENST00000557541.5:n.211G>C
ENST00000605275.1:n.387G>C
NM_000155.3:c.82+69G>C	NP_000146.2:n.82+69G>C
NM_001258332.1:c.-121+69G>C	NP_001245261.1:n.-121+69G>C
NM_000155.4:c.82+69G>C MANE Select	NP_000146.2:n.82+69G>C
NM_001258332.2:c.-121+69G>C	NP_001245261.1:n.-121+69G>C