Canonical Allele Identifier: CA52497972
Community Standard Title: NM_015348.2(TMEM131):c.187+5169A>G
Gene: TMEM131 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.97990307T>C , CM000664.2:g.97990307T>C GRCh38
NC_000002.11:g.98606770T>C , CM000664.1:g.98606770T>C GRCh37
NC_000002.10:g.97973202T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015348.2:c.187+5169A>G MANE Select NP_056163.1:n.187+5169A>G
ENST00000186436.10:c.187+5169A>G MANE Select ENSP00000186436.5:n.187+5169A>G
NM_015348.1:c.187+5169A>G NP_056163.1:n.187+5169A>G
ENST00000186436.9:c.187+5169A>G ENSP00000186436.5:n.187+5169A>G
ENST00000418629.6:c.69+5169A>G
ENST00000489507.1:n.76+5169A>G
XM_005263909.1:c.187+5169A>G XP_005263966.1:n.187+5169A>G
XM_005263910.1:c.187+5169A>G XP_005263967.1:n.187+5169A>G
XM_005263911.1:c.187+5169A>G XP_005263968.1:n.187+5169A>G
XM_005263912.2:c.187+5169A>G XP_005263969.1:n.187+5169A>G
XM_005263912.3:c.187+5169A>G XP_005263969.1:n.187+5169A>G
XM_011510869.1:c.187+5169A>G XP_011509171.1:n.187+5169A>G
XR_001738682.1:n.451+5169A>G