Canonical Allele Identifier: CA2336427168

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354695G= , CM000681.2:g.41354695G= GRCh38
NC_000019.9:g.41860600G= , CM000681.1:g.41860600G= GRCh37
NC_000019.8:g.46552440G= NCBI36
NG_013091.1:g.14479C=
NG_013364.1:g.4232C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.*5C= (B9D2) MANE Select ENSP00000243578.2:n.*5C=
ENST00000675972.1:c.*5C= (B9D2) ENSP00000501911.1:n.*5C=
ENST00000243578.7:c.*5C= (B9D2) ENSP00000243578.2:n.*5C=
ENST00000539627.5:c.-30+3493G= (TMEM91) ENSP00000441900.1:n.-30+3493G=
ENST00000594416.1:c.*379C= (B9D2) ENSP00000469666.1:n.*379C=
ENST00000604123.5:c.142+380G= (TMEM91) ENSP00000474871.1:n.142+380G=
ENST00000604424.1:n.350+3493G=
NM_030578.3:c.*5C= (B9D2) NP_085055.2:n.*5C=
XM_006723405.1:c.*5C= (B9D2) XP_006723468.1:n.*5C=
XM_011527349.1:c.*5C= (B9D2) XP_011525651.1:n.*5C=
XM_011527350.1:c.*5C= (B9D2) XP_011525652.1:n.*5C=
XM_011527349.2:c.*5C= (B9D2) XP_011525651.1:n.*5C=
XM_011527350.2:c.*5C= (B9D2) XP_011525652.1:n.*5C=
NM_030578.4:c.*5C= (B9D2) MANE Select NP_085055.2:n.*5C=