Canonical Allele Identifier: CA373283960

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648867G>C (hg19) ; chr9:g.34648870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648870G>C , CM000671.2:g.34648870G>C	GRCh38
NC_000009.11:g.34648867G>C , CM000671.1:g.34648867G>C	GRCh37
NC_000009.10:g.34638867G>C	NCBI36
NG_009029.1:g.7233G>C
NG_028966.1:g.1686G>C
NG_009029.2:g.7282G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*384G>C	ENSP00000509954.1:n.*384G>C
ENST00000378842.8:c.796G>C MANE Select	ENSP00000368119.4:p.Glu266Gln
ENST00000378842.7:c.796G>C	ENSP00000368119.3:p.Glu266Gln
ENST00000450095.6:c.469G>C	ENSP00000401956.2:p.Glu157Gln
ENST00000473506.6:c.*384G>C	ENSP00000432839.2:n.*384G>C
ENST00000489643.6:n.876G>C
ENST00000554085.5:c.*540G>C	ENSP00000450419.1:n.*540G>C
ENST00000554550.5:c.*416G>C	ENSP00000451435.1:n.*416G>C
ENST00000554638.5:n.1268G>C
ENST00000555020.5:n.1257G>C
ENST00000555086.5:n.800G>C
ENST00000555754.1:n.141G>C
ENST00000556244.1:c.783G>C
ENST00000556278.1:c.432+414G>C	ENSP00000451792.1:n.432+414G>C
ENST00000557706.5:n.1358G>C
NM_000155.3:c.796G>C	NP_000146.2:p.Glu266Gln
NM_001258332.1:c.469G>C	NP_001245261.1:p.Glu157Gln
NM_000155.4:c.796G>C MANE Select	NP_000146.2:p.Glu266Gln
NM_001258332.2:c.469G>C	NP_001245261.1:p.Glu157Gln