Canonical Allele Identifier: CA587568197

Gene: GALT

Linked Data

• dbSNP Id: rs1227497156
• gnomAD v2: 9-34647619-C-T
• gnomAD v3: 9-34647622-C-T
• gnomAD v4: 9-34647622-C-T
• MyVariant Identifiers: chr9:g.34647619C>T (hg19) ; chr9:g.34647622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647622C>T , CM000671.2:g.34647622C>T	GRCh38
NC_000009.11:g.34647619C>T , CM000671.1:g.34647619C>T	GRCh37
NC_000009.10:g.34637619C>T	NCBI36
NG_009029.1:g.5985C>T
NG_028966.1:g.438C>T
NG_009029.2:g.6034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+55C>T	ENSP00000509954.1:n.328+55C>T
ENST00000378842.8:c.329-35C>T MANE Select	ENSP00000368119.4:n.329-35C>T
ENST00000378842.7:c.329-35C>T	ENSP00000368119.3:n.329-35C>T
ENST00000450095.6:c.51-210C>T	ENSP00000401956.2:n.51-210C>T
ENST00000465543.6:n.668-35C>T
ENST00000472111.5:n.424C>T
ENST00000473506.6:c.280-35C>T	ENSP00000432839.2:n.280-35C>T
ENST00000473529.5:n.430C>T
ENST00000485531.1:n.609C>T
ENST00000487381.5:n.588-35C>T
ENST00000489643.6:n.282+364C>T
ENST00000554085.5:c.*73-35C>T	ENSP00000450419.1:n.*73-35C>T
ENST00000554139.5:n.382-35C>T
ENST00000554330.5:n.331C>T
ENST00000554550.5:c.253-210C>T	ENSP00000451435.1:n.253-210C>T
ENST00000554638.5:n.640C>T
ENST00000554897.5:c.253-210C>T	ENSP00000450942.1:n.253-210C>T
ENST00000554944.5:n.364C>T
ENST00000555020.5:n.359-35C>T
ENST00000555086.5:n.333-35C>T
ENST00000555214.5:n.261+364C>T
ENST00000556157.1:n.453-35C>T
ENST00000556244.1:c.316-35C>T
ENST00000556278.1:c.252+364C>T	ENSP00000451792.1:n.252+364C>T
ENST00000556403.5:n.396C>T
ENST00000556494.5:n.415C>T
ENST00000557541.5:n.473-35C>T
ENST00000557706.5:n.730C>T
NM_000155.3:c.329-35C>T	NP_000146.2:n.329-35C>T
NM_001258332.1:c.51-210C>T	NP_001245261.1:n.51-210C>T
NM_000155.4:c.329-35C>T MANE Select	NP_000146.2:n.329-35C>T
NM_001258332.2:c.51-210C>T	NP_001245261.1:n.51-210C>T