Canonical Allele Identifier: CA2336431021

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363449T= , CM000681.2:g.41363449T= GRCh38
NC_000019.9:g.41869354T= , CM000681.1:g.41869354T= GRCh37
NC_000019.8:g.46561194T= NCBI36
NG_013091.1:g.5725A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.71A= (B9D2) MANE Select ENSP00000243578.2:p.Lys24=
ENST00000675972.1:c.71A= (B9D2) ENSP00000501911.1:p.Lys24=
ENST00000243578.7:c.71A= (B9D2) ENSP00000243578.2:p.Lys24=
ENST00000539627.5:c.-30+12247T= (TMEM91) ENSP00000441900.1:n.-30+12247T=
ENST00000594416.1:c.71A= (B9D2) ENSP00000469666.1:p.Lys24=
ENST00000601597.1:n.210A= (B9D2)
ENST00000604123.5:c.142+9134T= (TMEM91) ENSP00000474871.1:n.142+9134T=
ENST00000604424.1:n.350+12247T=
NM_030578.3:c.71A= (B9D2) NP_085055.2:p.Lys24=
XM_006723405.1:c.71A= (B9D2) XP_006723468.1:p.Lys24=
XM_011527349.1:c.71A= (B9D2) XP_011525651.1:p.Lys24=
XM_011527350.1:c.-72+509A= (B9D2) XP_011525652.1:n.-72+509A=
XM_011527349.2:c.71A= (B9D2) XP_011525651.1:p.Lys24=
XM_011527350.2:c.-72+509A= (B9D2) XP_011525652.1:n.-72+509A=
NM_030578.4:c.71A= (B9D2) MANE Select NP_085055.2:p.Lys24=