Canonical Allele Identifier: CA464402122

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648378A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648381A>C , CM000671.2:g.34648381A>C	GRCh38
NC_000009.11:g.34648378A>C , CM000671.1:g.34648378A>C	GRCh37
NC_000009.10:g.34638378A>C	NCBI36
NG_009029.1:g.6744A>C
NG_028966.1:g.1197A>C
NG_009029.2:g.6793A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*200A>C	ENSP00000509954.1:n.*200A>C
ENST00000378842.8:c.612A>C MANE Select	ENSP00000368119.4:p.Arg204=
ENST00000378842.7:c.612A>C	ENSP00000368119.3:p.Arg204=
ENST00000450095.6:c.285A>C	ENSP00000401956.2:p.Arg95=
ENST00000472111.5:n.868A>C
ENST00000473506.6:c.*200A>C	ENSP00000432839.2:n.*200A>C
ENST00000473529.5:n.771A>C
ENST00000487381.5:n.997A>C
ENST00000489643.6:n.387A>C
ENST00000554085.5:c.*356A>C	ENSP00000450419.1:n.*356A>C
ENST00000554139.5:n.858A>C
ENST00000554550.5:c.*232A>C	ENSP00000451435.1:n.*232A>C
ENST00000554638.5:n.1084A>C
ENST00000554944.5:n.961A>C
ENST00000555020.5:n.768A>C
ENST00000555086.5:n.616A>C
ENST00000555214.5:n.433A>C
ENST00000556244.1:c.599A>C
ENST00000556278.1:c.357A>C	ENSP00000451792.1:p.Arg119=
ENST00000556494.5:n.733A>C
ENST00000557706.5:n.1174A>C
NM_000155.3:c.612A>C	NP_000146.2:p.Arg204=
NM_001258332.1:c.285A>C	NP_001245261.1:p.Arg95=
NM_000155.4:c.612A>C MANE Select	NP_000146.2:p.Arg204=
NM_001258332.2:c.285A>C	NP_001245261.1:p.Arg95=