Canonical Allele Identifier: CA464595620

Gene: GALT

Linked Data

• ClinVar Variation Id: 913656
• ClinVar RCV Id: RCV001167407 ; RCV003953557
• dbSNP Id: rs1300102277
• gnomAD v2: 9-34647506-T-C
• gnomAD v3: 9-34647509-T-C
• gnomAD v4: 9-34647509-T-C
• MyVariant Identifiers: chr9:g.34647506T>C (hg19) ; chr9:g.34647509T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647509T>C , CM000671.2:g.34647509T>C	GRCh38
NC_000009.11:g.34647506T>C , CM000671.1:g.34647506T>C	GRCh37
NC_000009.10:g.34637506T>C	NCBI36
NG_009029.1:g.5872T>C
NG_028966.1:g.325T>C
NG_009029.2:g.5921T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.270T>C	ENSP00000509954.1:p.Asp90=
ENST00000378842.8:c.270T>C MANE Select	ENSP00000368119.4:p.Asp90=
ENST00000378842.7:c.270T>C	ENSP00000368119.3:p.Asp90=
ENST00000450095.6:c.50+251T>C	ENSP00000401956.2:n.50+251T>C
ENST00000465543.6:n.609T>C
ENST00000468099.2:n.543T>C
ENST00000472111.5:n.311T>C
ENST00000473506.6:c.253-32T>C	ENSP00000432839.2:n.253-32T>C
ENST00000473529.5:n.317T>C
ENST00000485531.1:n.496T>C
ENST00000487381.5:n.529T>C
ENST00000489643.6:n.282+251T>C
ENST00000554085.5:c.*14T>C	ENSP00000450419.1:n.*14T>C
ENST00000554139.5:n.323T>C
ENST00000554330.5:n.250-32T>C
ENST00000554550.5:c.252+251T>C	ENSP00000451435.1:n.252+251T>C
ENST00000554638.5:n.527T>C
ENST00000554897.5:c.252+251T>C	ENSP00000450942.1:n.252+251T>C
ENST00000554944.5:n.283-32T>C
ENST00000555020.5:n.300T>C
ENST00000555086.5:n.274T>C
ENST00000555214.5:n.261+251T>C
ENST00000556157.1:n.394T>C
ENST00000556244.1:c.257T>C
ENST00000556278.1:c.252+251T>C	ENSP00000451792.1:n.252+251T>C
ENST00000556403.5:n.283T>C
ENST00000556494.5:n.302T>C
ENST00000557541.5:n.446-32T>C
ENST00000557706.5:n.617T>C
NM_000155.3:c.270T>C	NP_000146.2:p.Asp90=
NM_001258332.1:c.50+251T>C	NP_001245261.1:n.50+251T>C
NM_000155.4:c.270T>C MANE Select	NP_000146.2:p.Asp90=
NM_001258332.2:c.50+251T>C	NP_001245261.1:n.50+251T>C