Canonical Allele Identifier: CA373282062

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648386A>C (hg19) ; chr9:g.34648389A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648389A>C , CM000671.2:g.34648389A>C	GRCh38
NC_000009.11:g.34648386A>C , CM000671.1:g.34648386A>C	GRCh37
NC_000009.10:g.34638386A>C	NCBI36
NG_009029.1:g.6752A>C
NG_028966.1:g.1205A>C
NG_009029.2:g.6801A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*208A>C	ENSP00000509954.1:n.*208A>C
ENST00000378842.8:c.620A>C MANE Select	ENSP00000368119.4:p.Gln207Pro
ENST00000378842.7:c.620A>C	ENSP00000368119.3:p.Gln207Pro
ENST00000450095.6:c.293A>C	ENSP00000401956.2:p.Gln98Pro
ENST00000472111.5:n.876A>C
ENST00000473506.6:c.*208A>C	ENSP00000432839.2:n.*208A>C
ENST00000473529.5:n.779A>C
ENST00000487381.5:n.1005A>C
ENST00000489643.6:n.395A>C
ENST00000554085.5:c.*364A>C	ENSP00000450419.1:n.*364A>C
ENST00000554550.5:c.*240A>C	ENSP00000451435.1:n.*240A>C
ENST00000554638.5:n.1092A>C
ENST00000554944.5:n.969A>C
ENST00000555020.5:n.776A>C
ENST00000555086.5:n.624A>C
ENST00000555214.5:n.441A>C
ENST00000556244.1:c.607A>C
ENST00000556278.1:c.365A>C	ENSP00000451792.1:p.Gln122Pro
ENST00000556494.5:n.741A>C
ENST00000557706.5:n.1182A>C
NM_000155.3:c.620A>C	NP_000146.2:p.Gln207Pro
NM_001258332.1:c.293A>C	NP_001245261.1:p.Gln98Pro
NM_000155.4:c.620A>C MANE Select	NP_000146.2:p.Gln207Pro
NM_001258332.2:c.293A>C	NP_001245261.1:p.Gln98Pro