Canonical Allele Identifier: CA373280062

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647547C>T (hg19) ; chr9:g.34647550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647550C>T , CM000671.2:g.34647550C>T	GRCh38
NC_000009.11:g.34647547C>T , CM000671.1:g.34647547C>T	GRCh37
NC_000009.10:g.34637547C>T	NCBI36
NG_009029.1:g.5913C>T
NG_028966.1:g.366C>T
NG_009029.2:g.5962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.311C>T	ENSP00000509954.1:p.Pro104Leu
ENST00000378842.8:c.311C>T MANE Select	ENSP00000368119.4:p.Pro104Leu
ENST00000378842.7:c.311C>T	ENSP00000368119.3:p.Pro104Leu
ENST00000450095.6:c.51-282C>T	ENSP00000401956.2:n.51-282C>T
ENST00000465543.6:n.650C>T
ENST00000472111.5:n.352C>T
ENST00000473506.6:c.262C>T	ENSP00000432839.2:p.Leu88=
ENST00000473529.5:n.358C>T
ENST00000485531.1:n.537C>T
ENST00000487381.5:n.570C>T
ENST00000489643.6:n.282+292C>T
ENST00000554085.5:c.*55C>T	ENSP00000450419.1:n.*55C>T
ENST00000554139.5:n.364C>T
ENST00000554330.5:n.259C>T
ENST00000554550.5:c.253-282C>T	ENSP00000451435.1:n.253-282C>T
ENST00000554638.5:n.568C>T
ENST00000554897.5:c.253-282C>T	ENSP00000450942.1:n.253-282C>T
ENST00000554944.5:n.292C>T
ENST00000555020.5:n.341C>T
ENST00000555086.5:n.315C>T
ENST00000555214.5:n.261+292C>T
ENST00000556157.1:n.435C>T
ENST00000556244.1:c.298C>T
ENST00000556278.1:c.252+292C>T	ENSP00000451792.1:n.252+292C>T
ENST00000556403.5:n.324C>T
ENST00000556494.5:n.343C>T
ENST00000557541.5:n.455C>T
ENST00000557706.5:n.658C>T
NM_000155.3:c.311C>T	NP_000146.2:p.Pro104Leu
NM_001258332.1:c.51-282C>T	NP_001245261.1:n.51-282C>T
NM_000155.4:c.311C>T MANE Select	NP_000146.2:p.Pro104Leu
NM_001258332.2:c.51-282C>T	NP_001245261.1:n.51-282C>T