Canonical Allele Identifier: CA1845635747

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647227T= , CM000671.2:g.34647227T=	GRCh38
NC_000009.11:g.34647224T= , CM000671.1:g.34647224T=	GRCh37
NC_000009.10:g.34637224T=	NCBI36
NG_009029.1:g.5590T=
NG_028966.1:g.43T=
NG_009029.2:g.5639T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.221T= MANE Select	NP_000146.2:p.Leu74=
ENST00000378842.8:c.221T= MANE Select	ENSP00000368119.4:p.Leu74=
NM_000155.3:c.221T=	NP_000146.2:p.Leu74=
NM_001258332.1:c.19T=	NP_001245261.1:p.Cys7=
NM_001258332.2:c.19T=	NP_001245261.1:p.Cys7=
ENST00000378842.7:c.221T=	ENSP00000368119.3:p.Leu74=
ENST00000450095.6:c.19T=	ENSP00000401956.2:p.Cys7=
ENST00000465543.6:n.560T=
ENST00000468099.2:n.261T=
ENST00000472111.5:n.262T=
ENST00000473506.6:c.221T=	ENSP00000432839.2:p.Leu74=
ENST00000473529.5:n.268T=
ENST00000485531.1:n.214T=
ENST00000487381.5:n.247T=
ENST00000489643.6:n.251T=
ENST00000554085.5:c.221T=	ENSP00000450419.1:p.Leu74=
ENST00000554139.5:n.274T=
ENST00000554330.5:n.218T=
ENST00000554550.5:c.221T=	ENSP00000451435.1:p.Leu74=
ENST00000554638.5:n.245T=
ENST00000554897.5:c.221T=	ENSP00000450942.1:p.Leu74=
ENST00000554944.5:n.251T=
ENST00000555020.5:n.251T=
ENST00000555086.5:n.225T=
ENST00000555214.5:n.230T=
ENST00000556157.1:n.328T=
ENST00000556244.1:c.105T=
ENST00000556278.1:c.221T=	ENSP00000451792.1:p.Leu74=
ENST00000556403.5:n.234T=
ENST00000556494.5:n.253T=
ENST00000557541.5:n.414T=
ENST00000557706.5:n.335T=
ENST00000691183.1:c.221T=	ENSP00000509954.1:p.Leu74=