Canonical Allele Identifier: CA12474713

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.88220264C>T , CM000669.2:g.88220264C>T GRCh38
NC_000007.13:g.87849579C>T , CM000669.1:g.87849579C>T GRCh37
NC_000007.12:g.87687515C>T NCBI36
NG_032138.1:g.11730G>A , LRG_414:g.11730G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394641.7:c.7-1322G>A (SRI) ENSP00000378137.3:n.7-1322G>A
ENST00000431660.5:c.7-1322G>A (SRI) ENSP00000391148.1:n.7-1322G>A
ENST00000489079.1:n.46-1322G>A (SRI)
ENST00000490437.5:c.7-3073G>A (SRI) ENSP00000418512.1:n.7-3073G>A
NM_001256892.1:c.7-1322G>A (SRI) NP_001243821.1:n.7-1322G>A
NM_198901.1:c.7-1322G>A (SRI) NP_944490.1:n.7-1322G>A
NR_120517.1:n.574+1040C>T (SRI-AS1)
XM_011516528.1:c.7-3073G>A (SRI) XP_011514830.1:n.7-3073G>A
NM_001256892.2:c.7-1322G>A (SRI) NP_001243821.1:n.7-1322G>A
NM_198901.2:c.7-1322G>A (SRI) NP_944490.1:n.7-1322G>A