Canonical Allele Identifier: CA373282266

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648425A>C (hg19) ; chr9:g.34648428A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648428A>C , CM000671.2:g.34648428A>C	GRCh38
NC_000009.11:g.34648425A>C , CM000671.1:g.34648425A>C	GRCh37
NC_000009.10:g.34638425A>C	NCBI36
NG_009029.1:g.6791A>C
NG_028966.1:g.1244A>C
NG_009029.2:g.6840A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*247A>C	ENSP00000509954.1:n.*247A>C
ENST00000378842.8:c.659A>C MANE Select	ENSP00000368119.4:p.Glu220Ala
ENST00000378842.7:c.659A>C	ENSP00000368119.3:p.Glu220Ala
ENST00000450095.6:c.332A>C	ENSP00000401956.2:p.Glu111Ala
ENST00000472111.5:n.915A>C
ENST00000473506.6:c.*247A>C	ENSP00000432839.2:n.*247A>C
ENST00000473529.5:n.818A>C
ENST00000487381.5:n.1044A>C
ENST00000489643.6:n.434A>C
ENST00000554085.5:c.*403A>C	ENSP00000450419.1:n.*403A>C
ENST00000554550.5:c.*279A>C	ENSP00000451435.1:n.*279A>C
ENST00000554638.5:n.1131A>C
ENST00000555020.5:n.815A>C
ENST00000555086.5:n.663A>C
ENST00000555214.5:n.480A>C
ENST00000555754.1:n.4A>C
ENST00000556244.1:c.646A>C
ENST00000556278.1:c.404A>C	ENSP00000451792.1:p.Glu135Ala
ENST00000556494.5:n.780A>C
ENST00000557706.5:n.1221A>C
NM_000155.3:c.659A>C	NP_000146.2:p.Glu220Ala
NM_001258332.1:c.332A>C	NP_001245261.1:p.Glu111Ala
NM_000155.4:c.659A>C MANE Select	NP_000146.2:p.Glu220Ala
NM_001258332.2:c.332A>C	NP_001245261.1:p.Glu111Ala