Canonical Allele Identifier: CA373282200

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648411G>C (hg19) ; chr9:g.34648414G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648414G>C , CM000671.2:g.34648414G>C	GRCh38
NC_000009.11:g.34648411G>C , CM000671.1:g.34648411G>C	GRCh37
NC_000009.10:g.34638411G>C	NCBI36
NG_009029.1:g.6777G>C
NG_028966.1:g.1230G>C
NG_009029.2:g.6826G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*233G>C	ENSP00000509954.1:n.*233G>C
ENST00000378842.8:c.645G>C MANE Select	ENSP00000368119.4:p.Glu215Asp
ENST00000378842.7:c.645G>C	ENSP00000368119.3:p.Glu215Asp
ENST00000450095.6:c.318G>C	ENSP00000401956.2:p.Glu106Asp
ENST00000472111.5:n.901G>C
ENST00000473506.6:c.*233G>C	ENSP00000432839.2:n.*233G>C
ENST00000473529.5:n.804G>C
ENST00000487381.5:n.1030G>C
ENST00000489643.6:n.420G>C
ENST00000554085.5:c.*389G>C	ENSP00000450419.1:n.*389G>C
ENST00000554550.5:c.*265G>C	ENSP00000451435.1:n.*265G>C
ENST00000554638.5:n.1117G>C
ENST00000555020.5:n.801G>C
ENST00000555086.5:n.649G>C
ENST00000555214.5:n.466G>C
ENST00000556244.1:c.632G>C
ENST00000556278.1:c.390G>C	ENSP00000451792.1:p.Glu130Asp
ENST00000556494.5:n.766G>C
ENST00000557706.5:n.1207G>C
NM_000155.3:c.645G>C	NP_000146.2:p.Glu215Asp
NM_001258332.1:c.318G>C	NP_001245261.1:p.Glu106Asp
NM_000155.4:c.645G>C MANE Select	NP_000146.2:p.Glu215Asp
NM_001258332.2:c.318G>C	NP_001245261.1:p.Glu106Asp