Canonical Allele Identifier: CA5036086

Gene: GALT

Linked Data

• dbSNP Id: rs767517167
• ExAC: 9:34647607 C / T
• gnomAD v2: 9-34647607-C-T
• gnomAD v4: 9-34647610-C-T
• MyVariant Identifiers: chr9:g.34647607C>T (hg19) ; chr9:g.34647610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647610C>T , CM000671.2:g.34647610C>T	GRCh38
NC_000009.11:g.34647607C>T , CM000671.1:g.34647607C>T	GRCh37
NC_000009.10:g.34637607C>T	NCBI36
NG_009029.1:g.5973C>T
NG_028966.1:g.426C>T
NG_009029.2:g.6022C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+43C>T	ENSP00000509954.1:n.328+43C>T
ENST00000378842.8:c.328+43C>T MANE Select	ENSP00000368119.4:n.328+43C>T
ENST00000378842.7:c.328+43C>T	ENSP00000368119.3:n.328+43C>T
ENST00000450095.6:c.51-222C>T	ENSP00000401956.2:n.51-222C>T
ENST00000465543.6:n.667+43C>T
ENST00000472111.5:n.412C>T
ENST00000473506.6:c.279+43C>T	ENSP00000432839.2:n.279+43C>T
ENST00000473529.5:n.418C>T
ENST00000485531.1:n.597C>T
ENST00000487381.5:n.587+43C>T
ENST00000489643.6:n.282+352C>T
ENST00000554085.5:c.*72+43C>T	ENSP00000450419.1:n.*72+43C>T
ENST00000554139.5:n.381+43C>T
ENST00000554330.5:n.319C>T
ENST00000554550.5:c.253-222C>T	ENSP00000451435.1:n.253-222C>T
ENST00000554638.5:n.628C>T
ENST00000554897.5:c.253-222C>T	ENSP00000450942.1:n.253-222C>T
ENST00000554944.5:n.352C>T
ENST00000555020.5:n.358+43C>T
ENST00000555086.5:n.332+43C>T
ENST00000555214.5:n.261+352C>T
ENST00000556157.1:n.452+43C>T
ENST00000556244.1:c.315+43C>T
ENST00000556278.1:c.252+352C>T	ENSP00000451792.1:n.252+352C>T
ENST00000556403.5:n.384C>T
ENST00000556494.5:n.403C>T
ENST00000557541.5:n.472+43C>T
ENST00000557706.5:n.718C>T
NM_000155.3:c.328+43C>T	NP_000146.2:n.328+43C>T
NM_001258332.1:c.51-222C>T	NP_001245261.1:n.51-222C>T
NM_000155.4:c.328+43C>T MANE Select	NP_000146.2:n.328+43C>T
NM_001258332.2:c.51-222C>T	NP_001245261.1:n.51-222C>T