Canonical Allele Identifier: CA2336427339
Community Standard Title: NM_030578.4(B9D2):c.220C= (p.Pro74=)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355008G= , CM000681.2:g.41355008G= GRCh38
NC_000019.9:g.41860913G= , CM000681.1:g.41860913G= GRCh37
NC_000019.8:g.46552753G= NCBI36
NG_013091.1:g.14166C=
NG_013364.1:g.3919C=

Transcript Alleles

HGVS Amino-acid Change
NM_030578.4:c.220C= (B9D2) MANE Select NP_085055.2:p.Pro74=
ENST00000243578.8:c.220C= (B9D2) MANE Select ENSP00000243578.2:p.Pro74=
NM_030578.3:c.220C= (B9D2) NP_085055.2:p.Pro74=
ENST00000243578.7:c.220C= (B9D2) ENSP00000243578.2:p.Pro74=
ENST00000539627.5:c.-30+3806G= (TMEM91) ENSP00000441900.1:n.-30+3806G=
ENST00000594416.1:c.*66C= (B9D2) ENSP00000469666.1:n.*66C=
ENST00000604123.5:c.142+693G= (TMEM91) ENSP00000474871.1:n.142+693G=
ENST00000604424.1:n.350+3806G=
ENST00000675972.1:c.220C= (B9D2) ENSP00000501911.1:p.Pro74=
XM_006723405.1:c.94C= (B9D2) XP_006723468.1:p.Pro32=
XM_011527349.1:c.220C= (B9D2) XP_011525651.1:p.Pro74=
XM_011527349.2:c.220C= (B9D2) XP_011525651.1:p.Pro74=
XM_011527350.1:c.61C= (B9D2) XP_011525652.1:p.Pro21=
XM_011527350.2:c.61C= (B9D2) XP_011525652.1:p.Pro21=