Canonical Allele Identifier: CA587568181

Gene: GALT

Linked Data

• dbSNP Id: rs1184167473
• gnomAD v2: 9-34647372-T-C
• gnomAD v4: 9-34647375-T-C
• MyVariant Identifiers: chr9:g.34647372T>C (hg19) ; chr9:g.34647375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647375T>C , CM000671.2:g.34647375T>C	GRCh38
NC_000009.11:g.34647372T>C , CM000671.1:g.34647372T>C	GRCh37
NC_000009.10:g.34637372T>C	NCBI36
NG_009029.1:g.5738T>C
NG_028966.1:g.191T>C
NG_009029.2:g.5787T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-117T>C	ENSP00000509954.1:n.253-117T>C
ENST00000378842.8:c.253-117T>C MANE Select	ENSP00000368119.4:n.253-117T>C
ENST00000378842.7:c.253-117T>C	ENSP00000368119.3:n.253-117T>C
ENST00000450095.6:c.50+117T>C	ENSP00000401956.2:n.50+117T>C
ENST00000465543.6:n.592-117T>C
ENST00000468099.2:n.409T>C
ENST00000472111.5:n.294-117T>C
ENST00000473506.6:c.252+117T>C	ENSP00000432839.2:n.252+117T>C
ENST00000473529.5:n.300-117T>C
ENST00000485531.1:n.362T>C
ENST00000487381.5:n.395T>C
ENST00000489643.6:n.282+117T>C
ENST00000554085.5:c.253-100T>C	ENSP00000450419.1:n.253-100T>C
ENST00000554139.5:n.306-117T>C
ENST00000554330.5:n.249+117T>C
ENST00000554550.5:c.252+117T>C	ENSP00000451435.1:n.252+117T>C
ENST00000554638.5:n.393T>C
ENST00000554897.5:c.252+117T>C	ENSP00000450942.1:n.252+117T>C
ENST00000554944.5:n.282+117T>C
ENST00000555020.5:n.283-117T>C
ENST00000555086.5:n.257-117T>C
ENST00000555214.5:n.261+117T>C
ENST00000556157.1:n.360-100T>C
ENST00000556244.1:c.137-14T>C
ENST00000556278.1:c.252+117T>C	ENSP00000451792.1:n.252+117T>C
ENST00000556403.5:n.266-117T>C
ENST00000556494.5:n.285-117T>C
ENST00000557541.5:n.445+117T>C
ENST00000557706.5:n.483T>C
NM_000155.3:c.253-117T>C	NP_000146.2:n.253-117T>C
NM_001258332.1:c.50+117T>C	NP_001245261.1:n.50+117T>C
NM_000155.4:c.253-117T>C MANE Select	NP_000146.2:n.253-117T>C
NM_001258332.2:c.50+117T>C	NP_001245261.1:n.50+117T>C