Canonical Allele Identifier: CA192669047

Gene: GALT

Linked Data

• dbSNP Id: rs913565776
• gnomAD v3: 9-34646850-C-T
• gnomAD v4: 9-34646850-C-T
• MyVariant Identifiers: chr9:g.34646847C>T (hg19) ; chr9:g.34646850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646850C>T , CM000671.2:g.34646850C>T	GRCh38
NC_000009.11:g.34646847C>T , CM000671.1:g.34646847C>T	GRCh37
NC_000009.10:g.34636847C>T	NCBI36
NG_009029.1:g.5213C>T
NG_009029.2:g.5262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.82+64C>T	ENSP00000509954.1:n.82+64C>T
ENST00000378842.8:c.82+64C>T MANE Select	ENSP00000368119.4:n.82+64C>T
ENST00000378842.7:c.82+64C>T	ENSP00000368119.3:n.82+64C>T
ENST00000450095.6:c.-121+64C>T	ENSP00000401956.2:n.-121+64C>T
ENST00000465543.6:n.183C>T
ENST00000468099.2:n.154+64C>T
ENST00000472111.5:n.123+64C>T
ENST00000473506.6:c.82+64C>T	ENSP00000432839.2:n.82+64C>T
ENST00000473529.5:n.129+64C>T
ENST00000485531.1:n.6C>T
ENST00000487381.5:n.108+64C>T
ENST00000489643.6:n.112+64C>T
ENST00000554085.5:c.82+64C>T	ENSP00000450419.1:n.82+64C>T
ENST00000554139.5:n.135+64C>T
ENST00000554330.5:n.62C>T
ENST00000554550.5:c.82+64C>T	ENSP00000451435.1:n.82+64C>T
ENST00000554638.5:n.106+64C>T
ENST00000554897.5:c.82+64C>T	ENSP00000450942.1:n.82+64C>T
ENST00000554944.5:n.112+64C>T
ENST00000555020.5:n.112+64C>T
ENST00000555086.5:n.69C>T
ENST00000555214.5:n.91+64C>T
ENST00000556278.1:c.82+64C>T	ENSP00000451792.1:n.82+64C>T
ENST00000556403.5:n.78C>T
ENST00000556494.5:n.45C>T
ENST00000557541.5:n.206C>T
ENST00000605275.1:n.382C>T
NM_000155.3:c.82+64C>T	NP_000146.2:n.82+64C>T
NM_001258332.1:c.-121+64C>T	NP_001245261.1:n.-121+64C>T
NM_000155.4:c.82+64C>T MANE Select	NP_000146.2:n.82+64C>T
NM_001258332.2:c.-121+64C>T	NP_001245261.1:n.-121+64C>T