Canonical Allele Identifier: CA373278545

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647117G>C (hg19) ; chr9:g.34647120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647120G>C , CM000671.2:g.34647120G>C	GRCh38
NC_000009.11:g.34647117G>C , CM000671.1:g.34647117G>C	GRCh37
NC_000009.10:g.34637117G>C	NCBI36
NG_009029.1:g.5483G>C
NG_009029.2:g.5532G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.114G>C	ENSP00000509954.1:p.Gln38His
ENST00000378842.8:c.114G>C MANE Select	ENSP00000368119.4:p.Gln38His
ENST00000378842.7:c.114G>C	ENSP00000368119.3:p.Gln38His
ENST00000450095.6:c.-89G>C	ENSP00000401956.2:n.-89G>C
ENST00000465543.6:n.453G>C
ENST00000468099.2:n.155-1G>C
ENST00000472111.5:n.155G>C
ENST00000473506.6:c.114G>C	ENSP00000432839.2:p.Gln38His
ENST00000473529.5:n.161G>C
ENST00000485531.1:n.107G>C
ENST00000487381.5:n.140G>C
ENST00000489643.6:n.144G>C
ENST00000554085.5:c.114G>C	ENSP00000450419.1:p.Gln38His
ENST00000554139.5:n.167G>C
ENST00000554330.5:n.111G>C
ENST00000554550.5:c.114G>C	ENSP00000451435.1:p.Gln38His
ENST00000554638.5:n.138G>C
ENST00000554897.5:c.114G>C	ENSP00000450942.1:p.Gln38His
ENST00000554944.5:n.144G>C
ENST00000555020.5:n.144G>C
ENST00000555086.5:n.118G>C
ENST00000555214.5:n.123G>C
ENST00000556157.1:n.221G>C
ENST00000556278.1:c.114G>C	ENSP00000451792.1:p.Gln38His
ENST00000556403.5:n.127G>C
ENST00000556494.5:n.146G>C
ENST00000557541.5:n.307G>C
ENST00000557706.5:n.228G>C
ENST00000605275.1:n.652G>C
NM_000155.3:c.114G>C	NP_000146.2:p.Gln38His
NM_001258332.1:c.-89G>C	NP_001245261.1:n.-89G>C
NM_000155.4:c.114G>C MANE Select	NP_000146.2:p.Gln38His
NM_001258332.2:c.-89G>C	NP_001245261.1:n.-89G>C