Canonical Allele Identifier: CA2689808713

Gene: GALT

Linked Data

• gnomAD v4: 9-34648245-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648245A>C , CM000671.2:g.34648245A>C	GRCh38
NC_000009.11:g.34648242A>C , CM000671.1:g.34648242A>C	GRCh37
NC_000009.10:g.34638242A>C	NCBI36
NG_009029.1:g.6608A>C
NG_028966.1:g.1061A>C
NG_009029.2:g.6657A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*152+74A>C	ENSP00000509954.1:n.*152+74A>C
ENST00000378842.8:c.564+74A>C MANE Select	ENSP00000368119.4:n.564+74A>C
ENST00000378842.7:c.564+74A>C	ENSP00000368119.3:n.564+74A>C
ENST00000450095.6:c.237+74A>C	ENSP00000401956.2:n.237+74A>C
ENST00000472111.5:n.820+74A>C
ENST00000473506.6:c.*152+74A>C	ENSP00000432839.2:n.*152+74A>C
ENST00000473529.5:n.723+74A>C
ENST00000485531.1:n.1158+74A>C
ENST00000487381.5:n.949+74A>C
ENST00000489643.6:n.339+74A>C
ENST00000554085.5:c.*308+74A>C	ENSP00000450419.1:n.*308+74A>C
ENST00000554139.5:n.810+74A>C
ENST00000554550.5:c.*184+74A>C	ENSP00000451435.1:n.*184+74A>C
ENST00000554638.5:n.1036+74A>C
ENST00000554897.5:c.*251+74A>C	ENSP00000450942.1:n.*251+74A>C
ENST00000554944.5:n.913+74A>C
ENST00000555020.5:n.720+74A>C
ENST00000555086.5:n.568+74A>C
ENST00000555214.5:n.385+74A>C
ENST00000556244.1:c.551+74A>C
ENST00000556278.1:c.309+74A>C	ENSP00000451792.1:n.309+74A>C
ENST00000556494.5:n.685+74A>C
ENST00000557706.5:n.1126+74A>C
NM_000155.3:c.564+74A>C	NP_000146.2:n.564+74A>C
NM_001258332.1:c.237+74A>C	NP_001245261.1:n.237+74A>C
NM_000155.4:c.564+74A>C MANE Select	NP_000146.2:n.564+74A>C
NM_001258332.2:c.237+74A>C	NP_001245261.1:n.237+74A>C