Canonical Allele Identifier: CA373278686

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647183G>C (hg19) ; chr9:g.34647186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647186G>C , CM000671.2:g.34647186G>C	GRCh38
NC_000009.11:g.34647183G>C , CM000671.1:g.34647183G>C	GRCh37
NC_000009.10:g.34637183G>C	NCBI36
NG_009029.1:g.5549G>C
NG_028966.1:g.2G>C
NG_009029.2:g.5598G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.180G>C	ENSP00000509954.1:p.Gln60His
ENST00000378842.8:c.180G>C MANE Select	ENSP00000368119.4:p.Gln60His
ENST00000378842.7:c.180G>C	ENSP00000368119.3:p.Gln60His
ENST00000450095.6:c.-23G>C	ENSP00000401956.2:n.-23G>C
ENST00000465543.6:n.519G>C
ENST00000468099.2:n.220G>C
ENST00000472111.5:n.221G>C
ENST00000473506.6:c.180G>C	ENSP00000432839.2:p.Gln60His
ENST00000473529.5:n.227G>C
ENST00000485531.1:n.173G>C
ENST00000487381.5:n.206G>C
ENST00000489643.6:n.210G>C
ENST00000554085.5:c.180G>C	ENSP00000450419.1:p.Gln60His
ENST00000554139.5:n.233G>C
ENST00000554330.5:n.177G>C
ENST00000554550.5:c.180G>C	ENSP00000451435.1:p.Gln60His
ENST00000554638.5:n.204G>C
ENST00000554897.5:c.180G>C	ENSP00000450942.1:p.Gln60His
ENST00000554944.5:n.210G>C
ENST00000555020.5:n.210G>C
ENST00000555086.5:n.184G>C
ENST00000555214.5:n.189G>C
ENST00000556157.1:n.287G>C
ENST00000556244.1:c.64G>C
ENST00000556278.1:c.180G>C	ENSP00000451792.1:p.Gln60His
ENST00000556403.5:n.193G>C
ENST00000556494.5:n.212G>C
ENST00000557541.5:n.373G>C
ENST00000557706.5:n.294G>C
NM_000155.3:c.180G>C	NP_000146.2:p.Gln60His
NM_001258332.1:c.-23G>C	NP_001245261.1:n.-23G>C
NM_000155.4:c.180G>C MANE Select	NP_000146.2:p.Gln60His
NM_001258332.2:c.-23G>C	NP_001245261.1:n.-23G>C