Canonical Allele Identifier: CA475449763
Community Standard Title: NM_006019.4(TCIRG1):c.1269G>C (p.Ala423=)
Gene: TCIRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68047536G>C , CM000673.2:g.68047536G>C GRCh38
NC_000011.9:g.67815003G>C , CM000673.1:g.67815003G>C GRCh37
NC_000011.8:g.67571579G>C NCBI36
NG_007878.1:g.13521G>C , LRG_115:g.13521G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006019.4:c.1269G>C MANE Select NP_006010.2:p.Ala423=
ENST00000265686.8:c.1269G>C MANE Select ENSP00000265686.3:p.Ala423=
NM_001351059.1:c.375G>C NP_001337988.1:p.Ala125=
NM_001351059.2:c.375G>C NP_001337988.1:p.Ala125=
NM_006019.3:c.1269G>C NP_006010.2:p.Ala423=
NM_006053.3:c.621G>C NP_006044.1:p.Ala207=
NM_006053.4:c.621G>C NP_006044.1:p.Ala207=
ENST00000265686.7:c.1269G>C ENSP00000265686.3:p.Ala423=
ENST00000525516.1:n.63G>C
ENST00000525724.5:n.581G>C
ENST00000528981.5:c.421G>C
ENST00000529364.1:c.680G>C
ENST00000532635.5:c.621G>C ENSP00000434407.1:p.Ala207=
ENST00000533005.5:n.305G>C
ENST00000698254.1:c.798G>C ENSP00000513629.1:p.Ala266=
ENST00000698255.1:c.1218G>C ENSP00000513630.1:p.Ala406=
ENST00000698256.1:c.735G>C
ENST00000698257.1:n.687G>C
ENST00000698258.1:n.253G>C
ENST00000698259.1:n.93G>C
XM_005273709.2:c.1269G>C XP_005273766.1:p.Ala423=
XM_011544726.1:c.1269G>C XP_011543028.1:p.Ala423=
XM_011544727.1:c.1269G>C XP_011543029.1:p.Ala423=
XM_011544728.1:c.1269G>C XP_011543030.1:p.Ala423=
XM_011544729.1:c.1285G>C XP_011543031.1:p.Gly429Arg
XM_024448320.1:c.1285G>C XP_024304088.1:p.Gly429Arg
XM_024448321.1:c.1285G>C XP_024304089.1:p.Gly429Arg
XM_024448322.1:c.1285G>C XP_024304090.1:p.Gly429Arg
XM_024448323.1:c.1285G>C XP_024304091.1:p.Gly429Arg
XM_024448324.1:c.1285G>C XP_024304092.1:p.Gly429Arg
XR_001747721.2:n.1393G>C
XR_001747722.1:n.1406G>C
XR_001747723.2:n.1406G>C
XR_002957115.1:n.1407G>C
XR_949754.1:n.1273G>C