Canonical Allele Identifier: CA10605461

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648826_34648827delinsCT , CM000671.2:g.34648826_34648827delinsCT	GRCh38
NC_000009.11:g.34648823_34648824delinsCT , CM000671.1:g.34648823_34648824delinsCT	GRCh37
NC_000009.10:g.34638823_34638824delinsCT	NCBI36
NG_009029.1:g.7189_7190delinsCT
NG_028966.1:g.1642_1643delinsCT
NG_009029.2:g.7238_7239delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*340_*341delinsCT	ENSP00000509954.1:n.*340_*341delinsCT
ENST00000378842.8:c.752_753delinsCT MANE Select	ENSP00000368119.4:p.Tyr251Ser
ENST00000378842.7:c.752_753delinsCT	ENSP00000368119.3:p.Tyr251Ser
ENST00000450095.6:c.425_426delinsCT	ENSP00000401956.2:p.Tyr142Ser
ENST00000473506.6:c.*340_*341delinsCT	ENSP00000432839.2:n.*340_*341delinsCT
ENST00000473529.5:n.911_912delinsCT
ENST00000489643.6:n.832_833delinsCT
ENST00000554085.5:c.*496_*497delinsCT	ENSP00000450419.1:n.*496_*497delinsCT
ENST00000554550.5:c.*372_*373delinsCT	ENSP00000451435.1:n.*372_*373delinsCT
ENST00000554638.5:n.1224_1225delinsCT
ENST00000555020.5:n.1213_1214delinsCT
ENST00000555086.5:n.756_757delinsCT
ENST00000555754.1:n.97_98delinsCT
ENST00000556244.1:c.739_740delinsCT
ENST00000556278.1:c.432+370_432+371delinsCT	ENSP00000451792.1:n.432+370_432+371delinsCT
ENST00000557706.5:n.1314_1315delinsCT
NM_000155.3:c.752_753delinsCT	NP_000146.2:p.Tyr251Ser
NM_001258332.1:c.425_426delinsCT	NP_001245261.1:p.Tyr142Ser
NM_000155.4:c.752_753delinsCT MANE Select	NP_000146.2:p.Tyr251Ser
NM_001258332.2:c.425_426delinsCT	NP_001245261.1:p.Tyr142Ser