Canonical Allele Identifier: CA1123156956

Gene: GALT

Linked Data

• dbSNP Id: rs766742012
• gnomAD v3: 9-34647748-G-T
• gnomAD v4: 9-34647748-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647748G>T , CM000671.2:g.34647748G>T	GRCh38
NC_000009.11:g.34647745G>T , CM000671.1:g.34647745G>T	GRCh37
NC_000009.10:g.34637745G>T	NCBI36
NG_009029.1:g.6111G>T
NG_028966.1:g.564G>T
NG_009029.2:g.6160G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.329-84G>T	ENSP00000509954.1:n.329-84G>T
ENST00000378842.8:c.377+43G>T MANE Select	ENSP00000368119.4:n.377+43G>T
ENST00000378842.7:c.377+43G>T	ENSP00000368119.3:n.377+43G>T
ENST00000450095.6:c.51-84G>T	ENSP00000401956.2:n.51-84G>T
ENST00000465543.6:n.716+43G>T
ENST00000472111.5:n.550G>T
ENST00000473506.6:c.328+43G>T	ENSP00000432839.2:n.328+43G>T
ENST00000473529.5:n.513+43G>T
ENST00000485531.1:n.735G>T
ENST00000487381.5:n.679G>T
ENST00000489643.6:n.283-367G>T
ENST00000554085.5:c.*121+43G>T	ENSP00000450419.1:n.*121+43G>T
ENST00000554139.5:n.473G>T
ENST00000554330.5:n.457G>T
ENST00000554550.5:c.253-84G>T	ENSP00000451435.1:n.253-84G>T
ENST00000554638.5:n.766G>T
ENST00000554897.5:c.253-84G>T	ENSP00000450942.1:n.253-84G>T
ENST00000554944.5:n.490G>T
ENST00000555020.5:n.450G>T
ENST00000555086.5:n.381+43G>T
ENST00000555214.5:n.262-300G>T
ENST00000556157.1:n.544G>T
ENST00000556244.1:c.364+43G>T
ENST00000556278.1:c.253-367G>T	ENSP00000451792.1:n.253-367G>T
ENST00000556403.5:n.522G>T
ENST00000556494.5:n.498+43G>T
ENST00000557541.5:n.521+43G>T
ENST00000557706.5:n.856G>T
NM_000155.3:c.377+43G>T	NP_000146.2:n.377+43G>T
NM_001258332.1:c.51-84G>T	NP_001245261.1:n.51-84G>T
NM_000155.4:c.377+43G>T MANE Select	NP_000146.2:n.377+43G>T
NM_001258332.2:c.51-84G>T	NP_001245261.1:n.51-84G>T