Canonical Allele Identifier: CA5036026

Gene: GALT

Linked Data

• dbSNP Id: rs774933597
• ExAC: 9:34647113 T / G
• gnomAD v2: 9-34647113-T-G
• gnomAD v4: 9-34647116-T-G
• MyVariant Identifiers: chr9:g.34647113T>G (hg19) ; chr9:g.34647116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647116T>G , CM000671.2:g.34647116T>G	GRCh38
NC_000009.11:g.34647113T>G , CM000671.1:g.34647113T>G	GRCh37
NC_000009.10:g.34637113T>G	NCBI36
NG_009029.1:g.5479T>G
NG_009029.2:g.5528T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.110T>G	ENSP00000509954.1:p.Leu37Arg
ENST00000378842.8:c.110T>G MANE Select	ENSP00000368119.4:p.Leu37Arg
ENST00000378842.7:c.110T>G	ENSP00000368119.3:p.Leu37Arg
ENST00000450095.6:c.-93T>G	ENSP00000401956.2:n.-93T>G
ENST00000465543.6:n.449T>G
ENST00000468099.2:n.155-5T>G
ENST00000472111.5:n.151T>G
ENST00000473506.6:c.110T>G	ENSP00000432839.2:p.Leu37Arg
ENST00000473529.5:n.157T>G
ENST00000485531.1:n.103T>G
ENST00000487381.5:n.136T>G
ENST00000489643.6:n.140T>G
ENST00000554085.5:c.110T>G	ENSP00000450419.1:p.Leu37Arg
ENST00000554139.5:n.163T>G
ENST00000554330.5:n.107T>G
ENST00000554550.5:c.110T>G	ENSP00000451435.1:p.Leu37Arg
ENST00000554638.5:n.134T>G
ENST00000554897.5:c.110T>G	ENSP00000450942.1:p.Leu37Arg
ENST00000554944.5:n.140T>G
ENST00000555020.5:n.140T>G
ENST00000555086.5:n.114T>G
ENST00000555214.5:n.119T>G
ENST00000556157.1:n.217T>G
ENST00000556278.1:c.110T>G	ENSP00000451792.1:p.Leu37Arg
ENST00000556403.5:n.123T>G
ENST00000556494.5:n.142T>G
ENST00000557541.5:n.303T>G
ENST00000557706.5:n.224T>G
ENST00000605275.1:n.648T>G
NM_000155.3:c.110T>G	NP_000146.2:p.Leu37Arg
NM_001258332.1:c.-93T>G	NP_001245261.1:n.-93T>G
NM_000155.4:c.110T>G MANE Select	NP_000146.2:p.Leu37Arg
NM_001258332.2:c.-93T>G	NP_001245261.1:n.-93T>G