Canonical Allele Identifier: CA464401901

Gene: GALT

Linked Data

• dbSNP Id: rs1821157790
• gnomAD v4: 9-34648171-G-A
• MyVariant Identifiers: chr9:g.34648168G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648171G>A , CM000671.2:g.34648171G>A	GRCh38
NC_000009.11:g.34648168G>A , CM000671.1:g.34648168G>A	GRCh37
NC_000009.10:g.34638168G>A	NCBI36
NG_009029.1:g.6534G>A
NG_028966.1:g.987G>A
NG_009029.2:g.6583G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*152G>A	ENSP00000509954.1:n.*152G>A
ENST00000378842.8:c.564G>A MANE Select	ENSP00000368119.4:p.Gln188=
ENST00000378842.7:c.564G>A	ENSP00000368119.3:p.Gln188=
ENST00000450095.6:c.237G>A	ENSP00000401956.2:p.Gln79=
ENST00000465543.6:n.903G>A
ENST00000472111.5:n.820G>A
ENST00000473506.6:c.*152G>A	ENSP00000432839.2:n.*152G>A
ENST00000473529.5:n.723G>A
ENST00000485531.1:n.1158G>A
ENST00000487381.5:n.949G>A
ENST00000489643.6:n.339G>A
ENST00000554085.5:c.*308G>A	ENSP00000450419.1:n.*308G>A
ENST00000554139.5:n.810G>A
ENST00000554550.5:c.*184G>A	ENSP00000451435.1:n.*184G>A
ENST00000554638.5:n.1036G>A
ENST00000554897.5:c.*251G>A	ENSP00000450942.1:n.*251G>A
ENST00000554944.5:n.913G>A
ENST00000555020.5:n.720G>A
ENST00000555086.5:n.568G>A
ENST00000555214.5:n.385G>A
ENST00000556244.1:c.551G>A
ENST00000556278.1:c.309G>A	ENSP00000451792.1:p.Gln103=
ENST00000556494.5:n.685G>A
ENST00000557706.5:n.1126G>A
NM_000155.3:c.564G>A	NP_000146.2:p.Gln188=
NM_001258332.1:c.237G>A	NP_001245261.1:p.Gln79=
NM_000155.4:c.564G>A MANE Select	NP_000146.2:p.Gln188=
NM_001258332.2:c.237G>A	NP_001245261.1:p.Gln79=