Canonical Allele Identifier: CA3140382

Gene: GALNT7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.173295403A>T , CM000666.2:g.173295403A>T	GRCh38
NC_000004.11:g.174216554A>T , CM000666.1:g.174216554A>T	GRCh37
NC_000004.10:g.174453129A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017423.3:c.762A>T MANE Select	NP_059119.2:p.Leu254Phe
ENST00000265000.9:c.762A>T MANE Select	ENSP00000265000.4:p.Leu254Phe
NM_001375599.1:c.762A>T	NP_001362528.1:p.Leu254Phe
NM_001375600.1:c.762A>T	NP_001362529.1:p.Leu254Phe
NM_001375601.1:c.762A>T	NP_001362530.1:p.Leu254Phe
NM_017423.2:c.762A>T	NP_059119.2:p.Leu254Phe
ENST00000265000.8:c.762A>T	ENSP00000265000.4:p.Leu254Phe
ENST00000502407.1:n.211A>T
ENST00000505308.5:c.152A>T
ENST00000505308.6:c.762A>T	ENSP00000427095.2:p.Leu254Phe
ENST00000512285.5:c.762A>T	ENSP00000427050.1:p.Leu254Phe
XM_005263062.1:c.762A>T	XP_005263119.1:p.Leu254Phe
XM_005263062.2:c.762A>T	XP_005263119.1:p.Leu254Phe
XM_011532025.1:c.639A>T	XP_011530327.1:p.Leu213Phe
XM_011532025.3:c.639A>T	XP_011530327.1:p.Leu213Phe
XM_017008292.2:c.714A>T	XP_016863781.1:p.Leu238Phe
XM_017008293.1:c.714A>T	XP_016863782.1:p.Leu238Phe