Canonical Allele Identifier: CA12337187
Community Standard Title: NM_007124.3(UTRN):c.2196+196T>G
Gene: UTRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.144451689T>G , CM000668.2:g.144451689T>G GRCh38
NC_000006.11:g.144772825T>G , CM000668.1:g.144772825T>G GRCh37
NC_000006.10:g.144814518T>G NCBI36
NG_042293.1:g.164953T>G

Transcript Alleles

HGVS Amino-acid Change
NM_007124.3:c.2196+196T>G MANE Select NP_009055.2:n.2196+196T>G
ENST00000367545.8:c.2196+196T>G MANE Select ENSP00000356515.3:n.2196+196T>G
NM_007124.2:c.2196+196T>G NP_009055.2:n.2196+196T>G
ENST00000367545.7:c.2196+196T>G ENSP00000356515.3:n.2196+196T>G
XM_005267127.3:c.2211+196T>G XP_005267184.1:n.2211+196T>G
XM_005267127.5:c.2211+196T>G XP_005267184.1:n.2211+196T>G
XM_005267130.1:c.2196+196T>G XP_005267187.1:n.2196+196T>G
XM_005267130.2:c.2196+196T>G XP_005267187.1:n.2196+196T>G
XM_005267133.1:c.2169+196T>G XP_005267190.1:n.2169+196T>G
XM_005267133.3:c.2169+196T>G XP_005267190.1:n.2169+196T>G
XM_011536101.1:c.2304+196T>G XP_011534403.1:n.2304+196T>G
XM_011536101.3:c.2304+196T>G XP_011534403.1:n.2304+196T>G
XM_011536102.1:c.2304+196T>G XP_011534404.1:n.2304+196T>G
XM_011536102.2:c.2304+196T>G XP_011534404.1:n.2304+196T>G
XM_011536103.1:c.2304+196T>G XP_011534405.1:n.2304+196T>G
XM_011536104.1:c.2304+196T>G XP_011534406.1:n.2304+196T>G
XM_011536105.1:c.2304+196T>G XP_011534407.1:n.2304+196T>G
XM_011536106.1:c.2196+196T>G XP_011534408.1:n.2196+196T>G
XM_011536106.2:c.2196+196T>G XP_011534408.1:n.2196+196T>G
XM_011536107.1:c.2169+196T>G XP_011534409.1:n.2169+196T>G
XM_011536108.1:c.2304+196T>G XP_011534410.1:n.2304+196T>G
XM_017011243.2:c.2304+196T>G XP_016866732.1:n.2304+196T>G
XM_017011244.1:c.2304+196T>G XP_016866733.1:n.2304+196T>G
XM_017011245.1:c.2304+196T>G XP_016866734.1:n.2304+196T>G
XM_024446536.1:c.2169+196T>G XP_024302304.1:n.2169+196T>G