Canonical Allele Identifier: CA1123157237

Gene: GALT

Linked Data

• dbSNP Id: rs1821159307
• gnomAD v3: 9-34648224-T-C
• gnomAD v4: 9-34648224-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648224T>C , CM000671.2:g.34648224T>C	GRCh38
NC_000009.11:g.34648221T>C , CM000671.1:g.34648221T>C	GRCh37
NC_000009.10:g.34638221T>C	NCBI36
NG_009029.1:g.6587T>C
NG_028966.1:g.1040T>C
NG_009029.2:g.6636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*152+53T>C	ENSP00000509954.1:n.*152+53T>C
ENST00000378842.8:c.564+53T>C MANE Select	ENSP00000368119.4:n.564+53T>C
ENST00000378842.7:c.564+53T>C	ENSP00000368119.3:n.564+53T>C
ENST00000450095.6:c.237+53T>C	ENSP00000401956.2:n.237+53T>C
ENST00000472111.5:n.820+53T>C
ENST00000473506.6:c.*152+53T>C	ENSP00000432839.2:n.*152+53T>C
ENST00000473529.5:n.723+53T>C
ENST00000485531.1:n.1158+53T>C
ENST00000487381.5:n.949+53T>C
ENST00000489643.6:n.339+53T>C
ENST00000554085.5:c.*308+53T>C	ENSP00000450419.1:n.*308+53T>C
ENST00000554139.5:n.810+53T>C
ENST00000554550.5:c.*184+53T>C	ENSP00000451435.1:n.*184+53T>C
ENST00000554638.5:n.1036+53T>C
ENST00000554897.5:c.*251+53T>C	ENSP00000450942.1:n.*251+53T>C
ENST00000554944.5:n.913+53T>C
ENST00000555020.5:n.720+53T>C
ENST00000555086.5:n.568+53T>C
ENST00000555214.5:n.385+53T>C
ENST00000556244.1:c.551+53T>C
ENST00000556278.1:c.309+53T>C	ENSP00000451792.1:n.309+53T>C
ENST00000556494.5:n.685+53T>C
ENST00000557706.5:n.1126+53T>C
NM_000155.3:c.564+53T>C	NP_000146.2:n.564+53T>C
NM_001258332.1:c.237+53T>C	NP_001245261.1:n.237+53T>C
NM_000155.4:c.564+53T>C MANE Select	NP_000146.2:n.564+53T>C
NM_001258332.2:c.237+53T>C	NP_001245261.1:n.237+53T>C