Canonical Allele Identifier: CA1845639757

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648834C= , CM000671.2:g.34648834C=	GRCh38
NC_000009.11:g.34648831C= , CM000671.1:g.34648831C=	GRCh37
NC_000009.10:g.34638831C=	NCBI36
NG_009029.1:g.7197C=
NG_028966.1:g.1650C=
NG_009029.2:g.7246C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*348C=	ENSP00000509954.1:n.*348C=
ENST00000378842.8:c.760C= MANE Select	ENSP00000368119.4:p.Leu254=
ENST00000378842.7:c.760C=	ENSP00000368119.3:p.Leu254=
ENST00000450095.6:c.433C=	ENSP00000401956.2:p.Leu145=
ENST00000473506.6:c.*348C=	ENSP00000432839.2:n.*348C=
ENST00000489643.6:n.840C=
ENST00000554085.5:c.*504C=	ENSP00000450419.1:n.*504C=
ENST00000554550.5:c.*380C=	ENSP00000451435.1:n.*380C=
ENST00000554638.5:n.1232C=
ENST00000555020.5:n.1221C=
ENST00000555086.5:n.764C=
ENST00000555754.1:n.105C=
ENST00000556244.1:c.747C=
ENST00000556278.1:c.432+378C=	ENSP00000451792.1:n.432+378C=
ENST00000557706.5:n.1322C=
NM_000155.3:c.760C=	NP_000146.2:p.Leu254=
NM_001258332.1:c.433C=	NP_001245261.1:p.Leu145=
NM_000155.4:c.760C= MANE Select	NP_000146.2:p.Leu254=
NM_001258332.2:c.433C=	NP_001245261.1:p.Leu145=