Canonical Allele Identifier: CA6147339
Community Standard Title: NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His)
Gene: TCIRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68049760G>A , CM000673.2:g.68049760G>A GRCh38
NC_000011.9:g.67817227G>A , CM000673.1:g.67817227G>A GRCh37
NC_000011.8:g.67573803G>A NCBI36
NG_007878.1:g.15745G>A , LRG_115:g.15745G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006019.4:c.1985G>A MANE Select NP_006010.2:p.Arg662His
ENST00000265686.8:c.1985G>A MANE Select ENSP00000265686.3:p.Arg662His
NM_001351059.1:c.1091G>A NP_001337988.1:p.Arg364His
NM_001351059.2:c.1091G>A NP_001337988.1:p.Arg364His
NM_006019.3:c.1985G>A NP_006010.2:p.Arg662His
NM_006053.3:c.1337G>A NP_006044.1:p.Arg446His
NM_006053.4:c.1337G>A NP_006044.1:p.Arg446His
ENST00000265686.7:c.1985G>A ENSP00000265686.3:p.Arg662His
ENST00000524870.1:n.613G>A
ENST00000525724.5:n.1297G>A
ENST00000530449.2:n.978G>A
ENST00000532635.5:c.1337G>A ENSP00000434407.1:p.Arg446His
ENST00000533005.5:n.1098G>A
ENST00000698254.1:c.1514G>A ENSP00000513629.1:p.Arg505His
ENST00000698255.1:c.1934G>A ENSP00000513630.1:p.Arg645His
ENST00000698256.1:c.1451G>A
ENST00000698257.1:n.1403G>A
ENST00000698258.1:n.1120G>A
ENST00000698259.1:n.1254G>A
XM_005273709.2:c.1985G>A XP_005273766.1:p.Arg662His
XM_011544726.1:c.1985G>A XP_011543028.1:p.Arg662His
XM_011544727.1:c.1985G>A XP_011543029.1:p.Arg662His
XM_024448320.1:c.2078G>A XP_024304088.1:p.Arg693His
XM_024448321.1:c.2078G>A XP_024304089.1:p.Arg693His
XM_024448322.1:c.2078G>A XP_024304090.1:p.Arg693His
XM_024448323.1:c.2078G>A XP_024304091.1:p.Arg693His
XR_001747721.2:n.2154G>A
XR_001747722.1:n.2122G>A
XR_001747723.2:n.2167G>A
XR_002957115.1:n.2343G>A
XR_949754.1:n.2132G>A