Canonical Allele Identifier: CA5036080

Gene: GALT

Linked Data

• ClinVar Variation Id: 495675
• ClinVar RCV Id: RCV000586397 ; RCV001834833
• dbSNP Id: rs201330799
• ExAC: 9:34647504 G / C
• gnomAD v2: 9-34647504-G-C
• gnomAD v3: 9-34647507-G-C
• gnomAD v4: 9-34647507-G-C
• MyVariant Identifiers: chr9:g.34647504G>C (hg19) ; chr9:g.34647507G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647507G>C , CM000671.2:g.34647507G>C	GRCh38
NC_000009.11:g.34647504G>C , CM000671.1:g.34647504G>C	GRCh37
NC_000009.10:g.34637504G>C	NCBI36
NG_009029.1:g.5870G>C
NG_028966.1:g.323G>C
NG_009029.2:g.5919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.268G>C	ENSP00000509954.1:p.Asp90His
ENST00000378842.8:c.268G>C MANE Select	ENSP00000368119.4:p.Asp90His
ENST00000378842.7:c.268G>C	ENSP00000368119.3:p.Asp90His
ENST00000450095.6:c.50+249G>C	ENSP00000401956.2:n.50+249G>C
ENST00000465543.6:n.607G>C
ENST00000468099.2:n.541G>C
ENST00000472111.5:n.309G>C
ENST00000473506.6:c.253-34G>C	ENSP00000432839.2:n.253-34G>C
ENST00000473529.5:n.315G>C
ENST00000485531.1:n.494G>C
ENST00000487381.5:n.527G>C
ENST00000489643.6:n.282+249G>C
ENST00000554085.5:c.*12G>C	ENSP00000450419.1:n.*12G>C
ENST00000554139.5:n.321G>C
ENST00000554330.5:n.250-34G>C
ENST00000554550.5:c.252+249G>C	ENSP00000451435.1:n.252+249G>C
ENST00000554638.5:n.525G>C
ENST00000554897.5:c.252+249G>C	ENSP00000450942.1:n.252+249G>C
ENST00000554944.5:n.283-34G>C
ENST00000555020.5:n.298G>C
ENST00000555086.5:n.272G>C
ENST00000555214.5:n.261+249G>C
ENST00000556157.1:n.392G>C
ENST00000556244.1:c.255G>C
ENST00000556278.1:c.252+249G>C	ENSP00000451792.1:n.252+249G>C
ENST00000556403.5:n.281G>C
ENST00000556494.5:n.300G>C
ENST00000557541.5:n.446-34G>C
ENST00000557706.5:n.615G>C
NM_000155.3:c.268G>C	NP_000146.2:p.Asp90His
NM_001258332.1:c.50+249G>C	NP_001245261.1:n.50+249G>C
NM_000155.4:c.268G>C MANE Select	NP_000146.2:p.Asp90His
NM_001258332.2:c.50+249G>C	NP_001245261.1:n.50+249G>C