Canonical Allele Identifier: CA391931230

Gene: TMCO5A

Linked Data

• MyVariant Identifiers: chr15:g.38239874G>T (hg19) ; chr15:g.37947673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.37947673G>T , CM000677.2:g.37947673G>T	GRCh38
NC_000015.9:g.38239874G>T , CM000677.1:g.38239874G>T	GRCh37
NC_000015.8:g.36027166G>T	NCBI36
NG_052635.1:g.18067G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319669.5:c.645G>T MANE Select	ENSP00000327234.4:p.Lys215Asn
ENST00000319669.4:c.645G>T	ENSP00000327234.4:p.Lys215Asn
ENST00000559502.5:c.645G>T	ENSP00000454112.1:p.Lys215Asn
ENST00000560653.5:c.*85G>T	ENSP00000453561.1:n.*85G>T
NM_152453.3:c.645G>T	NP_689666.2:p.Lys215Asn
XM_005254168.2:c.645G>T	XP_005254225.1:p.Lys215Asn
XM_011521262.1:c.645G>T	XP_011519564.1:p.Lys215Asn
XM_011521263.1:c.645G>T	XP_011519565.1:p.Lys215Asn
NM_001330255.1:c.645G>T	NP_001317184.1:p.Lys215Asn
XM_005254168.3:c.645G>T	XP_005254225.1:p.Lys215Asn
XM_011521262.2:c.645G>T	XP_011519564.1:p.Lys215Asn
XR_002957626.1:n.848G>T
NM_001370735.1:c.645G>T	NP_001357664.1:p.Lys215Asn
NM_001370736.1:c.687G>T	NP_001357665.1:p.Lys229Asn
NM_001370737.1:c.645G>T	NP_001357666.1:p.Lys215Asn
NR_163584.1:n.834G>T
NR_163585.1:n.802G>T
NM_001330255.2:c.645G>T	NP_001317184.1:p.Lys215Asn
NM_152453.4:c.645G>T MANE Select	NP_689666.2:p.Lys215Asn