Canonical Allele Identifier: CA373280435

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647695G>C (hg19) ; chr9:g.34647698G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647698G>C , CM000671.2:g.34647698G>C	GRCh38
NC_000009.11:g.34647695G>C , CM000671.1:g.34647695G>C	GRCh37
NC_000009.10:g.34637695G>C	NCBI36
NG_009029.1:g.6061G>C
NG_028966.1:g.514G>C
NG_009029.2:g.6110G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+131G>C	ENSP00000509954.1:n.328+131G>C
ENST00000378842.8:c.370G>C MANE Select	ENSP00000368119.4:p.Gly124Arg
ENST00000378842.7:c.370G>C	ENSP00000368119.3:p.Gly124Arg
ENST00000450095.6:c.51-134G>C	ENSP00000401956.2:n.51-134G>C
ENST00000465543.6:n.709G>C
ENST00000472111.5:n.500G>C
ENST00000473506.6:c.321G>C	ENSP00000432839.2:p.Glu107Asp
ENST00000473529.5:n.506G>C
ENST00000485531.1:n.685G>C
ENST00000487381.5:n.629G>C
ENST00000489643.6:n.283-417G>C
ENST00000554085.5:c.*114G>C	ENSP00000450419.1:n.*114G>C
ENST00000554139.5:n.423G>C
ENST00000554330.5:n.407G>C
ENST00000554550.5:c.253-134G>C	ENSP00000451435.1:n.253-134G>C
ENST00000554638.5:n.716G>C
ENST00000554897.5:c.253-134G>C	ENSP00000450942.1:n.253-134G>C
ENST00000554944.5:n.440G>C
ENST00000555020.5:n.400G>C
ENST00000555086.5:n.374G>C
ENST00000555214.5:n.262-350G>C
ENST00000556157.1:n.494G>C
ENST00000556244.1:c.357G>C
ENST00000556278.1:c.253-417G>C	ENSP00000451792.1:n.253-417G>C
ENST00000556403.5:n.472G>C
ENST00000556494.5:n.491G>C
ENST00000557541.5:n.514G>C
ENST00000557706.5:n.806G>C
NM_000155.3:c.370G>C	NP_000146.2:p.Gly124Arg
NM_001258332.1:c.51-134G>C	NP_001245261.1:n.51-134G>C
NM_000155.4:c.370G>C MANE Select	NP_000146.2:p.Gly124Arg
NM_001258332.2:c.51-134G>C	NP_001245261.1:n.51-134G>C