Canonical Allele Identifier: CA464402025

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648351G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648354G>C , CM000671.2:g.34648354G>C	GRCh38
NC_000009.11:g.34648351G>C , CM000671.1:g.34648351G>C	GRCh37
NC_000009.10:g.34638351G>C	NCBI36
NG_009029.1:g.6717G>C
NG_028966.1:g.1170G>C
NG_009029.2:g.6766G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*173G>C	ENSP00000509954.1:n.*173G>C
ENST00000378842.8:c.585G>C MANE Select	ENSP00000368119.4:p.Leu195=
ENST00000378842.7:c.585G>C	ENSP00000368119.3:p.Leu195=
ENST00000450095.6:c.258G>C	ENSP00000401956.2:p.Leu86=
ENST00000472111.5:n.841G>C
ENST00000473506.6:c.*173G>C	ENSP00000432839.2:n.*173G>C
ENST00000473529.5:n.744G>C
ENST00000485531.1:n.1179G>C
ENST00000487381.5:n.970G>C
ENST00000489643.6:n.360G>C
ENST00000554085.5:c.*329G>C	ENSP00000450419.1:n.*329G>C
ENST00000554139.5:n.831G>C
ENST00000554550.5:c.*205G>C	ENSP00000451435.1:n.*205G>C
ENST00000554638.5:n.1057G>C
ENST00000554897.5:c.*272G>C	ENSP00000450942.1:n.*272G>C
ENST00000554944.5:n.934G>C
ENST00000555020.5:n.741G>C
ENST00000555086.5:n.589G>C
ENST00000555214.5:n.406G>C
ENST00000556244.1:c.572G>C
ENST00000556278.1:c.330G>C	ENSP00000451792.1:p.Leu110=
ENST00000556494.5:n.706G>C
ENST00000557706.5:n.1147G>C
NM_000155.3:c.585G>C	NP_000146.2:p.Leu195=
NM_001258332.1:c.258G>C	NP_001245261.1:p.Leu86=
NM_000155.4:c.585G>C MANE Select	NP_000146.2:p.Leu195=
NM_001258332.2:c.258G>C	NP_001245261.1:p.Leu86=