Canonical Allele Identifier: CA2579371150

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647411del , CM000671.2:g.34647411del	GRCh38
NC_000009.11:g.34647408del , CM000671.1:g.34647408del	GRCh37
NC_000009.10:g.34637408del	NCBI36
NG_009029.1:g.5774del
NG_028966.1:g.227del
NG_009029.2:g.5823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-81del	ENSP00000509954.1:n.253-81del
ENST00000378842.8:c.253-81del MANE Select	ENSP00000368119.4:n.253-81del
ENST00000378842.7:c.253-81del	ENSP00000368119.3:n.253-81del
ENST00000450095.6:c.50+153del	ENSP00000401956.2:n.50+153del
ENST00000465543.6:n.592-81del
ENST00000468099.2:n.445del
ENST00000472111.5:n.294-81del
ENST00000473506.6:c.253-130del	ENSP00000432839.2:n.253-130del
ENST00000473529.5:n.300-81del
ENST00000485531.1:n.398del
ENST00000487381.5:n.431del
ENST00000489643.6:n.282+153del
ENST00000554085.5:c.253-64del	ENSP00000450419.1:n.253-64del
ENST00000554139.5:n.306-81del
ENST00000554330.5:n.250-130del
ENST00000554550.5:c.252+153del	ENSP00000451435.1:n.252+153del
ENST00000554638.5:n.429del
ENST00000554897.5:c.252+153del	ENSP00000450942.1:n.252+153del
ENST00000554944.5:n.283-130del
ENST00000555020.5:n.283-81del
ENST00000555086.5:n.257-81del
ENST00000555214.5:n.261+153del
ENST00000556157.1:n.360-64del
ENST00000556244.1:c.159del
ENST00000556278.1:c.252+153del	ENSP00000451792.1:n.252+153del
ENST00000556403.5:n.266-81del
ENST00000556494.5:n.285-81del
ENST00000557541.5:n.446-130del
ENST00000557706.5:n.519del
NM_000155.3:c.253-81del	NP_000146.2:n.253-81del
NM_001258332.1:c.50+153del	NP_001245261.1:n.50+153del
NM_000155.4:c.253-81del MANE Select	NP_000146.2:n.253-81del
NM_001258332.2:c.50+153del	NP_001245261.1:n.50+153del