Canonical Allele Identifier: CA373282008

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648374A>C (hg19) ; chr9:g.34648377A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648377A>C , CM000671.2:g.34648377A>C	GRCh38
NC_000009.11:g.34648374A>C , CM000671.1:g.34648374A>C	GRCh37
NC_000009.10:g.34638374A>C	NCBI36
NG_009029.1:g.6740A>C
NG_028966.1:g.1193A>C
NG_009029.2:g.6789A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*196A>C	ENSP00000509954.1:n.*196A>C
ENST00000378842.8:c.608A>C MANE Select	ENSP00000368119.4:p.Glu203Ala
ENST00000378842.7:c.608A>C	ENSP00000368119.3:p.Glu203Ala
ENST00000450095.6:c.281A>C	ENSP00000401956.2:p.Glu94Ala
ENST00000472111.5:n.864A>C
ENST00000473506.6:c.*196A>C	ENSP00000432839.2:n.*196A>C
ENST00000473529.5:n.767A>C
ENST00000487381.5:n.993A>C
ENST00000489643.6:n.383A>C
ENST00000554085.5:c.*352A>C	ENSP00000450419.1:n.*352A>C
ENST00000554139.5:n.854A>C
ENST00000554550.5:c.*228A>C	ENSP00000451435.1:n.*228A>C
ENST00000554638.5:n.1080A>C
ENST00000554944.5:n.957A>C
ENST00000555020.5:n.764A>C
ENST00000555086.5:n.612A>C
ENST00000555214.5:n.429A>C
ENST00000556244.1:c.595A>C
ENST00000556278.1:c.353A>C	ENSP00000451792.1:p.Glu118Ala
ENST00000556494.5:n.729A>C
ENST00000557706.5:n.1170A>C
NM_000155.3:c.608A>C	NP_000146.2:p.Glu203Ala
NM_001258332.1:c.281A>C	NP_001245261.1:p.Glu94Ala
NM_000155.4:c.608A>C MANE Select	NP_000146.2:p.Glu203Ala
NM_001258332.2:c.281A>C	NP_001245261.1:p.Glu94Ala