Canonical Allele Identifier: CA394838052

Gene: NTAN1 PDXDC1

Linked Data

• dbSNP Id: rs1136001
• gnomAD v2: 16-15131974-G-A
• gnomAD v4: 16-15038117-G-A
• MyVariant Identifiers: chr16:g.15131974G>A (hg19) ; chr16:g.15038117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15038117G>A , CM000678.2:g.15038117G>A	GRCh38
NC_000016.9:g.15131974G>A , CM000678.1:g.15131974G>A	GRCh37
NC_000016.8:g.15039475G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000287706.8:c.847C>T (NTAN1) MANE Select	ENSP00000287706.3:p.His283Tyr
ENST00000396410.9:c.*1842G>A (PDXDC1) MANE Select	ENSP00000379691.4:n.*1842G>A
ENST00000287706.7:c.847C>T (NTAN1)	ENSP00000287706.3:p.His283Tyr
ENST00000396410.8:c.*1842G>A (PDXDC1)	ENSP00000379691.4:n.*1842G>A
ENST00000450288.3:c.*1842G>A (PDXDC1)	ENSP00000391147.3:n.*1842G>A
ENST00000535621.6:c.1399+8061G>A (PDXDC1)	ENSP00000437835.2:n.1399+8061G>A
ENST00000565187.5:c.*606C>T (NTAN1)	ENSP00000457467.1:n.*606C>T
ENST00000566542.5:n.2135C>T (NTAN1)
ENST00000622833.4:c.532C>T (NTAN1)	ENSP00000483643.1:p.His178Tyr
ENST00000624579.3:c.532C>T (NTAN1)	ENSP00000485340.1:p.His178Tyr
NM_001270766.1:c.532C>T (NTAN1)	NP_001257695.1:p.His178Tyr
NM_001270767.1:c.532C>T (NTAN1)	NP_001257696.1:p.His178Tyr
NM_001285444.1:c.*1842G>A (PDXDC1)	NP_001272373.1:n.*1842G>A
NM_001285445.1:c.*1842G>A (PDXDC1)	NP_001272374.1:n.*1842G>A
NM_001285447.1:c.*1842G>A (PDXDC1)	NP_001272376.1:n.*1842G>A
NM_001285448.1:c.*1842G>A (PDXDC1)	NP_001272377.1:n.*1842G>A
NM_001285449.1:c.1399+8061G>A (PDXDC1)	NP_001272378.1:n.1399+8061G>A
NM_015027.3:c.*1842G>A (PDXDC1)	NP_055842.2:n.*1842G>A
NM_173474.3:c.847C>T (NTAN1)	NP_775745.1:p.His283Tyr
XM_011522355.1:c.598C>T (NTAN1)	XP_011520657.1:p.His200Tyr
NM_001324019.1:c.*1842G>A (PDXDC1)	NP_001310948.1:n.*1842G>A
NM_001324020.1:c.1396+8061G>A (PDXDC1)	NP_001310949.1:n.1396+8061G>A
NM_001324021.1:c.1318+8061G>A (PDXDC1)	NP_001310950.1:n.1318+8061G>A
XM_011522355.2:c.598C>T (NTAN1)	XP_011520657.1:p.His200Tyr
XM_017023065.1:c.1354+8061G>A (PDXDC1)	XP_016878554.1:n.1354+8061G>A
XM_024450194.1:c.1354+8061G>A (PDXDC1)	XP_024305962.1:n.1354+8061G>A
XM_024450195.1:c.1453+8061G>A (PDXDC1)	XP_024305963.1:n.1453+8061G>A
XM_024450196.1:c.1426+8061G>A (PDXDC1)	XP_024305964.1:n.1426+8061G>A
XM_024450197.1:c.1273+8061G>A (PDXDC1)	XP_024305965.1:n.1273+8061G>A
NM_173474.4:c.847C>T (NTAN1) MANE Select	NP_775745.1:p.His283Tyr
NM_001285444.2:c.*1842G>A (PDXDC1)	NP_001272373.1:n.*1842G>A
NM_001285445.2:c.*1842G>A (PDXDC1)	NP_001272374.1:n.*1842G>A
NM_001324019.2:c.*1842G>A (PDXDC1)	NP_001310948.1:n.*1842G>A
NM_015027.4:c.*1842G>A (PDXDC1) MANE Select	NP_055842.2:n.*1842G>A
NM_001270766.2:c.532C>T (NTAN1)	NP_001257695.1:p.His178Tyr
NM_001270767.2:c.532C>T (NTAN1)	NP_001257696.1:p.His178Tyr
NM_001285449.2:c.1399+8061G>A (PDXDC1)	NP_001272378.1:n.1399+8061G>A
NM_001324020.2:c.1396+8061G>A (PDXDC1)	NP_001310949.1:n.1396+8061G>A
NM_001324021.2:c.1318+8061G>A (PDXDC1)	NP_001310950.1:n.1318+8061G>A