Canonical Allele Identifier: CA406011945

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363456A>T , CM000681.2:g.41363456A>T GRCh38
NC_000019.9:g.41869361A>T , CM000681.1:g.41869361A>T GRCh37
NC_000019.8:g.46561201A>T NCBI36
NG_013091.1:g.5718T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.64T>A (B9D2) MANE Select ENSP00000243578.2:p.Phe22Ile
ENST00000675972.1:c.64T>A (B9D2) ENSP00000501911.1:p.Phe22Ile
ENST00000243578.7:c.64T>A (B9D2) ENSP00000243578.2:p.Phe22Ile
ENST00000539627.5:c.-30+12254A>T (TMEM91) ENSP00000441900.1:n.-30+12254A>T
ENST00000594416.1:c.64T>A (B9D2) ENSP00000469666.1:p.Phe22Ile
ENST00000601597.1:n.203T>A (B9D2)
ENST00000604123.5:c.142+9141A>T (TMEM91) ENSP00000474871.1:n.142+9141A>T
ENST00000604424.1:n.350+12254A>T
NM_030578.3:c.64T>A (B9D2) NP_085055.2:p.Phe22Ile
XM_006723405.1:c.64T>A (B9D2) XP_006723468.1:p.Phe22Ile
XM_011527349.1:c.64T>A (B9D2) XP_011525651.1:p.Phe22Ile
XM_011527350.1:c.-72+502T>A (B9D2) XP_011525652.1:n.-72+502T>A
XM_011527349.2:c.64T>A (B9D2) XP_011525651.1:p.Phe22Ile
XM_011527350.2:c.-72+502T>A (B9D2) XP_011525652.1:n.-72+502T>A
NM_030578.4:c.64T>A (B9D2) MANE Select NP_085055.2:p.Phe22Ile