Canonical Allele Identifier: CA464402218

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648405T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648408T>C , CM000671.2:g.34648408T>C	GRCh38
NC_000009.11:g.34648405T>C , CM000671.1:g.34648405T>C	GRCh37
NC_000009.10:g.34638405T>C	NCBI36
NG_009029.1:g.6771T>C
NG_028966.1:g.1224T>C
NG_009029.2:g.6820T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*227T>C	ENSP00000509954.1:n.*227T>C
ENST00000378842.8:c.639T>C MANE Select	ENSP00000368119.4:p.His213=
ENST00000378842.7:c.639T>C	ENSP00000368119.3:p.His213=
ENST00000450095.6:c.312T>C	ENSP00000401956.2:p.His104=
ENST00000472111.5:n.895T>C
ENST00000473506.6:c.*227T>C	ENSP00000432839.2:n.*227T>C
ENST00000473529.5:n.798T>C
ENST00000487381.5:n.1024T>C
ENST00000489643.6:n.414T>C
ENST00000554085.5:c.*383T>C	ENSP00000450419.1:n.*383T>C
ENST00000554550.5:c.*259T>C	ENSP00000451435.1:n.*259T>C
ENST00000554638.5:n.1111T>C
ENST00000555020.5:n.795T>C
ENST00000555086.5:n.643T>C
ENST00000555214.5:n.460T>C
ENST00000556244.1:c.626T>C
ENST00000556278.1:c.384T>C	ENSP00000451792.1:p.His128=
ENST00000556494.5:n.760T>C
ENST00000557706.5:n.1201T>C
NM_000155.3:c.639T>C	NP_000146.2:p.His213=
NM_001258332.1:c.312T>C	NP_001245261.1:p.His104=
NM_000155.4:c.639T>C MANE Select	NP_000146.2:p.His213=
NM_001258332.2:c.312T>C	NP_001245261.1:p.His104=