Canonical Allele Identifier: CA373282066

Gene: GALT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*208A>T	ENSP00000509954.1:n.*208A>T
ENST00000378842.8:c.620A>T MANE Select	ENSP00000368119.4:p.Gln207Leu
ENST00000378842.7:c.620A>T	ENSP00000368119.3:p.Gln207Leu
ENST00000450095.6:c.293A>T	ENSP00000401956.2:p.Gln98Leu
ENST00000472111.5:n.876A>T
ENST00000473506.6:c.*208A>T	ENSP00000432839.2:n.*208A>T
ENST00000473529.5:n.779A>T
ENST00000487381.5:n.1005A>T
ENST00000489643.6:n.395A>T
ENST00000554085.5:c.*364A>T	ENSP00000450419.1:n.*364A>T
ENST00000554550.5:c.*240A>T	ENSP00000451435.1:n.*240A>T
ENST00000554638.5:n.1092A>T
ENST00000554944.5:n.969A>T
ENST00000555020.5:n.776A>T
ENST00000555086.5:n.624A>T
ENST00000555214.5:n.441A>T
ENST00000556244.1:c.607A>T
ENST00000556278.1:c.365A>T	ENSP00000451792.1:p.Gln122Leu
ENST00000556494.5:n.741A>T
ENST00000557706.5:n.1182A>T
NM_000155.3:c.620A>T	NP_000146.2:p.Gln207Leu
NM_001258332.1:c.293A>T	NP_001245261.1:p.Gln98Leu
NM_000155.4:c.620A>T MANE Select	NP_000146.2:p.Gln207Leu
NM_001258332.2:c.293A>T	NP_001245261.1:p.Gln98Leu