Canonical Allele Identifier: CA486480967

Gene: NIN

Linked Data

• gnomAD v4: 14-50757079-T-C
• MyVariant Identifiers: chr14:g.51223797T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50757079T>C , CM000676.2:g.50757079T>C	GRCh38
NC_000014.8:g.51223797T>C , CM000676.1:g.51223797T>C	GRCh37
NC_000014.7:g.50293547T>C	NCBI36
NG_032968.1:g.79043A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000485005.2:c.2400-2212A>G	ENSP00000431485.2:n.2400-2212A>G
ENST00000706705.1:c.1734-2212A>G	ENSP00000516508.1:n.1734-2212A>G
ENST00000706706.1:c.2400-2212A>G	ENSP00000516509.1:n.2400-2212A>G
ENST00000453196.6:c.3951A>G	ENSP00000412391.1:p.Glu1317=
ENST00000530997.7:c.3951A>G MANE Select	ENSP00000436092.2:p.Glu1317=
ENST00000673657.1:c.*1204-2212A>G	ENSP00000501199.1:n.*1204-2212A>G
ENST00000674030.1:c.*667-2212A>G	ENSP00000501260.1:n.*667-2212A>G
ENST00000245441.9:c.3951A>G	ENSP00000245441.5:p.Glu1317=
ENST00000324330.13:c.2400-2212A>G	ENSP00000324210.10:n.2400-2212A>G
ENST00000382041.7:c.3951A>G	ENSP00000371472.3:p.Glu1317=
ENST00000382043.8:c.2400-2212A>G	ENSP00000371474.4:n.2400-2212A>G
ENST00000389869.7:c.2422A>G
ENST00000453196.5:c.3951A>G	ENSP00000412391.1:p.Glu1317=
ENST00000476352.5:c.3951A>G	ENSP00000432924.1:p.Glu1317=
ENST00000530853.5:c.2422A>G
ENST00000530997.6:c.3951A>G	ENSP00000436092.2:p.Glu1317=
NM_016350.4:c.2400-2212A>G	NP_057434.4:n.2400-2212A>G
NM_020921.3:c.3951A>G	NP_065972.3:p.Glu1317=
NM_182944.2:c.3951A>G	NP_891989.2:p.Glu1317=
NM_182946.1:c.3951A>G	NP_891991.1:p.Glu1317=
XM_005267735.3:c.2400-2212A>G	XP_005267792.1:n.2400-2212A>G
XM_006720160.2:c.3951A>G	XP_006720223.2:p.Glu1317=
XM_011536817.1:c.4041A>G	XP_011535119.1:p.Glu1347=
XM_011536818.1:c.3951A>G	XP_011535120.1:p.Glu1317=
XM_011536819.1:c.4041A>G	XP_011535121.1:p.Glu1347=
XM_011536820.1:c.4041A>G	XP_011535122.1:p.Glu1347=
XM_011536821.1:c.3285A>G	XP_011535123.1:p.Glu1095=
XM_011536822.1:c.2490-2212A>G	XP_011535124.1:n.2490-2212A>G
XM_011536823.1:c.3969A>G	XP_011535125.1:p.Glu1323=
XM_011536824.1:c.2400-2212A>G	XP_011535126.1:n.2400-2212A>G
XM_011536819.3:c.4041A>G	XP_011535121.1:p.Glu1347=
XM_011536822.2:c.2490-2212A>G	XP_011535124.1:n.2490-2212A>G
XM_011536823.2:c.3969A>G	XP_011535125.1:p.Glu1323=
XM_024449622.1:c.4041A>G	XP_024305390.1:p.Glu1347=
XR_001750344.2:n.4239A>G
XR_001750345.2:n.4239A>G
XR_001750346.2:n.4161A>G
XR_001750347.2:n.2682-2212A>G
XR_001750348.2:n.2682-2212A>G
XR_001750349.2:n.2610-2212A>G
XR_001750350.2:n.2610-2212A>G
NM_016350.5:c.2400-2212A>G	NP_057434.4:n.2400-2212A>G
NM_020921.4:c.3951A>G MANE Select	NP_065972.4:p.Glu1317=
NM_182944.3:c.3951A>G	NP_891989.3:p.Glu1317=
NM_182946.2:c.3951A>G	NP_891991.2:p.Glu1317=