Canonical Allele Identifier: CA3140515

Gene: GALNT7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.173302131T>C , CM000666.2:g.173302131T>C	GRCh38
NC_000004.11:g.174223282T>C , CM000666.1:g.174223282T>C	GRCh37
NC_000004.10:g.174459857T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505308.6:c.1233T>C	ENSP00000427095.2:p.Ile411=
ENST00000265000.9:c.1233T>C MANE Select	ENSP00000265000.4:p.Ile411=
ENST00000265000.8:c.1233T>C	ENSP00000265000.4:p.Ile411=
ENST00000505308.5:c.623T>C
ENST00000506317.1:n.347T>C
NM_017423.2:c.1233T>C	NP_059119.2:p.Ile411=
XM_005263062.1:c.1233T>C	XP_005263119.1:p.Ile411=
XM_011532025.1:c.1110T>C	XP_011530327.1:p.Ile370=
XM_005263062.2:c.1233T>C	XP_005263119.1:p.Ile411=
XM_011532025.3:c.1110T>C	XP_011530327.1:p.Ile370=
XM_017008292.2:c.1185T>C	XP_016863781.1:p.Ile395=
XM_017008293.1:c.1185T>C	XP_016863782.1:p.Ile395=
NM_017423.3:c.1233T>C MANE Select	NP_059119.2:p.Ile411=
NM_001375599.1:c.1233T>C	NP_001362528.1:p.Ile411=
NM_001375600.1:c.1233T>C	NP_001362529.1:p.Ile411=
NM_001375601.1:c.886-1865T>C	NP_001362530.1:n.886-1865T>C