Canonical Allele Identifier: CA373278810

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647230C>T (hg19) ; chr9:g.34647233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647233C>T , CM000671.2:g.34647233C>T	GRCh38
NC_000009.11:g.34647230C>T , CM000671.1:g.34647230C>T	GRCh37
NC_000009.10:g.34637230C>T	NCBI36
NG_009029.1:g.5596C>T
NG_028966.1:g.49C>T
NG_009029.2:g.5645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.227C>T	ENSP00000509954.1:p.Pro76Leu
ENST00000378842.8:c.227C>T MANE Select	ENSP00000368119.4:p.Pro76Leu
ENST00000378842.7:c.227C>T	ENSP00000368119.3:p.Pro76Leu
ENST00000450095.6:c.25C>T	ENSP00000401956.2:p.Leu9=
ENST00000465543.6:n.566C>T
ENST00000468099.2:n.267C>T
ENST00000472111.5:n.268C>T
ENST00000473506.6:c.227C>T	ENSP00000432839.2:p.Pro76Leu
ENST00000473529.5:n.274C>T
ENST00000485531.1:n.220C>T
ENST00000487381.5:n.253C>T
ENST00000489643.6:n.257C>T
ENST00000554085.5:c.227C>T	ENSP00000450419.1:p.Pro76Leu
ENST00000554139.5:n.280C>T
ENST00000554330.5:n.224C>T
ENST00000554550.5:c.227C>T	ENSP00000451435.1:p.Pro76Leu
ENST00000554638.5:n.251C>T
ENST00000554897.5:c.227C>T	ENSP00000450942.1:p.Pro76Leu
ENST00000554944.5:n.257C>T
ENST00000555020.5:n.257C>T
ENST00000555086.5:n.231C>T
ENST00000555214.5:n.236C>T
ENST00000556157.1:n.334C>T
ENST00000556244.1:c.111C>T
ENST00000556278.1:c.227C>T	ENSP00000451792.1:p.Pro76Leu
ENST00000556403.5:n.240C>T
ENST00000556494.5:n.259C>T
ENST00000557541.5:n.420C>T
ENST00000557706.5:n.341C>T
NM_000155.3:c.227C>T	NP_000146.2:p.Pro76Leu
NM_001258332.1:c.25C>T	NP_001245261.1:p.Leu9=
NM_000155.4:c.227C>T MANE Select	NP_000146.2:p.Pro76Leu
NM_001258332.2:c.25C>T	NP_001245261.1:p.Leu9=