Canonical Allele Identifier: CA5036241

Gene: GALT

Linked Data

• dbSNP Id: rs768748399
• ExAC: 9:34649102 T / C
• gnomAD v2: 9-34649102-T-C
• gnomAD v4: 9-34649105-T-C
• MyVariant Identifiers: chr9:g.34649102T>C (hg19) ; chr9:g.34649105T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649105T>C , CM000671.2:g.34649105T>C	GRCh38
NC_000009.11:g.34649102T>C , CM000671.1:g.34649102T>C	GRCh37
NC_000009.10:g.34639102T>C	NCBI36
NG_009029.1:g.7468T>C
NG_028966.1:g.1921T>C
NG_009029.2:g.7517T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*492+24T>C	ENSP00000509954.1:n.*492+24T>C
ENST00000378842.8:c.904+24T>C MANE Select	ENSP00000368119.4:n.904+24T>C
ENST00000378842.7:c.904+24T>C	ENSP00000368119.3:n.904+24T>C
ENST00000450095.6:c.577+24T>C	ENSP00000401956.2:n.577+24T>C
ENST00000488412.2:n.184T>C
ENST00000489643.6:n.1008T>C
ENST00000554550.5:c.*524+24T>C	ENSP00000451435.1:n.*524+24T>C
ENST00000554638.5:n.1376+24T>C
ENST00000555020.5:n.1389T>C
ENST00000555086.5:n.1035T>C
ENST00000555754.1:n.352+24T>C
ENST00000556278.1:c.432+649T>C	ENSP00000451792.1:n.432+649T>C
ENST00000557706.5:n.1479+24T>C
NM_000155.3:c.904+24T>C	NP_000146.2:n.904+24T>C
NM_001258332.1:c.577+24T>C	NP_001245261.1:n.577+24T>C
NM_000155.4:c.904+24T>C MANE Select	NP_000146.2:n.904+24T>C
NM_001258332.2:c.577+24T>C	NP_001245261.1:n.577+24T>C