Canonical Allele Identifier: CA6147218
Community Standard Title: NM_006019.4(TCIRG1):c.1673+2T>C
Gene: TCIRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68048999T>C , CM000673.2:g.68048999T>C GRCh38
NC_000011.9:g.67816466T>C , CM000673.1:g.67816466T>C GRCh37
NC_000011.8:g.67573042T>C NCBI36
NG_007878.1:g.14984T>C , LRG_115:g.14984T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006019.4:c.1673+2T>C MANE Select NP_006010.2:n.1673+2T>C
ENST00000265686.8:c.1673+2T>C MANE Select ENSP00000265686.3:n.1673+2T>C
NM_001351059.1:c.779+2T>C NP_001337988.1:n.779+2T>C
NM_001351059.2:c.779+2T>C NP_001337988.1:n.779+2T>C
NM_006019.3:c.1673+2T>C NP_006010.2:n.1673+2T>C
NM_006053.3:c.1025+2T>C NP_006044.1:n.1025+2T>C
NM_006053.4:c.1025+2T>C NP_006044.1:n.1025+2T>C
ENST00000265686.7:c.1673+2T>C ENSP00000265686.3:n.1673+2T>C
ENST00000525724.5:n.985+2T>C
ENST00000530449.2:n.298+2T>C
ENST00000532635.5:c.1025+2T>C ENSP00000434407.1:n.1025+2T>C
ENST00000533005.5:n.786+2T>C
ENST00000698254.1:c.1202+2T>C ENSP00000513629.1:n.1202+2T>C
ENST00000698255.1:c.1622+2T>C ENSP00000513630.1:n.1622+2T>C
ENST00000698256.1:c.1139+2T>C
ENST00000698257.1:n.1091+2T>C
ENST00000698258.1:n.808+2T>C
ENST00000698259.1:n.574+2T>C
XM_005273709.2:c.1673+2T>C XP_005273766.1:n.1673+2T>C
XM_011544726.1:c.1673+2T>C XP_011543028.1:n.1673+2T>C
XM_011544727.1:c.1673+2T>C XP_011543029.1:n.1673+2T>C
XM_011544728.1:c.1673+2T>C XP_011543030.1:n.1673+2T>C
XM_024448320.1:c.1766+2T>C XP_024304088.1:n.1766+2T>C
XM_024448321.1:c.1766+2T>C XP_024304089.1:n.1766+2T>C
XM_024448322.1:c.1766+2T>C XP_024304090.1:n.1766+2T>C
XM_024448323.1:c.1766+2T>C XP_024304091.1:n.1766+2T>C
XM_024448324.1:c.1766+2T>C XP_024304092.1:n.1766+2T>C
XR_001747721.2:n.1797+2T>C
XR_001747722.1:n.1810+2T>C
XR_001747723.2:n.1810+2T>C
XR_002957115.1:n.1888+2T>C
XR_949754.1:n.1677+2T>C