Canonical Allele Identifier: CA6599454

Gene: SP7

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53328314A>G , CM000674.2:g.53328314A>G	GRCh38
NC_000012.11:g.53722098A>G , CM000674.1:g.53722098A>G	GRCh37
NC_000012.10:g.52008365A>G	NCBI36
NG_023391.1:g.12907T>C
NG_023391.2:g.21480T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536324.4:c.1128T>C MANE Select	ENSP00000443827.2:p.His376=
ENST00000303846.3:c.1128T>C	ENSP00000302812.3:p.His376=
ENST00000536324.3:c.1128T>C	ENSP00000443827.2:p.His376=
ENST00000537210.2:c.1074T>C	ENSP00000441367.2:p.His358=
NM_001173467.2:c.1128T>C	NP_001166938.1:p.His376=
NM_001300837.1:c.1074T>C	NP_001287766.1:p.His358=
NM_152860.1:c.1128T>C	NP_690599.1:p.His376=
XM_011537900.1:c.1074T>C	XP_011536202.1:p.His358=
XM_011537901.1:c.1074T>C	XP_011536203.1:p.His358=
XM_011537900.2:c.1074T>C	XP_011536202.1:p.His358=
NM_001173467.3:c.1128T>C MANE Select	NP_001166938.1:p.His376=
NM_152860.2:c.1128T>C	NP_690599.1:p.His376=
NM_001300837.2:c.1074T>C	NP_001287766.1:p.His358=