Canonical Allele Identifier: CA373278794

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647227G>C (hg19) ; chr9:g.34647230G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647230G>C , CM000671.2:g.34647230G>C	GRCh38
NC_000009.11:g.34647227G>C , CM000671.1:g.34647227G>C	GRCh37
NC_000009.10:g.34637227G>C	NCBI36
NG_009029.1:g.5593G>C
NG_028966.1:g.46G>C
NG_009029.2:g.5642G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.224G>C	ENSP00000509954.1:p.Cys75Ser
ENST00000378842.8:c.224G>C MANE Select	ENSP00000368119.4:p.Cys75Ser
ENST00000378842.7:c.224G>C	ENSP00000368119.3:p.Cys75Ser
ENST00000450095.6:c.22G>C	ENSP00000401956.2:p.Val8Leu
ENST00000465543.6:n.563G>C
ENST00000468099.2:n.264G>C
ENST00000472111.5:n.265G>C
ENST00000473506.6:c.224G>C	ENSP00000432839.2:p.Cys75Ser
ENST00000473529.5:n.271G>C
ENST00000485531.1:n.217G>C
ENST00000487381.5:n.250G>C
ENST00000489643.6:n.254G>C
ENST00000554085.5:c.224G>C	ENSP00000450419.1:p.Cys75Ser
ENST00000554139.5:n.277G>C
ENST00000554330.5:n.221G>C
ENST00000554550.5:c.224G>C	ENSP00000451435.1:p.Cys75Ser
ENST00000554638.5:n.248G>C
ENST00000554897.5:c.224G>C	ENSP00000450942.1:p.Cys75Ser
ENST00000554944.5:n.254G>C
ENST00000555020.5:n.254G>C
ENST00000555086.5:n.228G>C
ENST00000555214.5:n.233G>C
ENST00000556157.1:n.331G>C
ENST00000556244.1:c.108G>C
ENST00000556278.1:c.224G>C	ENSP00000451792.1:p.Cys75Ser
ENST00000556403.5:n.237G>C
ENST00000556494.5:n.256G>C
ENST00000557541.5:n.417G>C
ENST00000557706.5:n.338G>C
NM_000155.3:c.224G>C	NP_000146.2:p.Cys75Ser
NM_001258332.1:c.22G>C	NP_001245261.1:p.Val8Leu
NM_000155.4:c.224G>C MANE Select	NP_000146.2:p.Cys75Ser
NM_001258332.2:c.22G>C	NP_001245261.1:p.Val8Leu