Canonical Allele Identifier: CA2689808714

Gene: GALT

Linked Data

• gnomAD v4: 9-34648246-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648246A>C , CM000671.2:g.34648246A>C	GRCh38
NC_000009.11:g.34648243A>C , CM000671.1:g.34648243A>C	GRCh37
NC_000009.10:g.34638243A>C	NCBI36
NG_009029.1:g.6609A>C
NG_028966.1:g.1062A>C
NG_009029.2:g.6658A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*152+75A>C	ENSP00000509954.1:n.*152+75A>C
ENST00000378842.8:c.564+75A>C MANE Select	ENSP00000368119.4:n.564+75A>C
ENST00000378842.7:c.564+75A>C	ENSP00000368119.3:n.564+75A>C
ENST00000450095.6:c.237+75A>C	ENSP00000401956.2:n.237+75A>C
ENST00000472111.5:n.820+75A>C
ENST00000473506.6:c.*152+75A>C	ENSP00000432839.2:n.*152+75A>C
ENST00000473529.5:n.723+75A>C
ENST00000485531.1:n.1158+75A>C
ENST00000487381.5:n.949+75A>C
ENST00000489643.6:n.339+75A>C
ENST00000554085.5:c.*308+75A>C	ENSP00000450419.1:n.*308+75A>C
ENST00000554139.5:n.810+75A>C
ENST00000554550.5:c.*184+75A>C	ENSP00000451435.1:n.*184+75A>C
ENST00000554638.5:n.1036+75A>C
ENST00000554897.5:c.*251+75A>C	ENSP00000450942.1:n.*251+75A>C
ENST00000554944.5:n.913+75A>C
ENST00000555020.5:n.720+75A>C
ENST00000555086.5:n.568+75A>C
ENST00000555214.5:n.385+75A>C
ENST00000556244.1:c.551+75A>C
ENST00000556278.1:c.309+75A>C	ENSP00000451792.1:n.309+75A>C
ENST00000556494.5:n.685+75A>C
ENST00000557706.5:n.1126+75A>C
NM_000155.3:c.564+75A>C	NP_000146.2:n.564+75A>C
NM_001258332.1:c.237+75A>C	NP_001245261.1:n.237+75A>C
NM_000155.4:c.564+75A>C MANE Select	NP_000146.2:n.564+75A>C
NM_001258332.2:c.237+75A>C	NP_001245261.1:n.237+75A>C