Canonical Allele Identifier: CA2585299040

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354683G>T , CM000681.2:g.41354683G>T GRCh38
NC_000019.9:g.41860588G>T , CM000681.1:g.41860588G>T GRCh37
NC_000019.8:g.46552428G>T NCBI36
NG_013091.1:g.14491C>A
NG_013364.1:g.4244C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.*17C>A (B9D2) MANE Select ENSP00000243578.2:n.*17C>A
ENST00000675972.1:c.*17C>A (B9D2) ENSP00000501911.1:n.*17C>A
ENST00000243578.7:c.*17C>A (B9D2) ENSP00000243578.2:n.*17C>A
ENST00000539627.5:c.-30+3481G>T (TMEM91) ENSP00000441900.1:n.-30+3481G>T
ENST00000604123.5:c.142+368G>T (TMEM91) ENSP00000474871.1:n.142+368G>T
ENST00000604424.1:n.350+3481G>T
NM_030578.3:c.*17C>A (B9D2) NP_085055.2:n.*17C>A
XM_006723405.1:c.*17C>A (B9D2) XP_006723468.1:n.*17C>A
XM_011527349.1:c.*17C>A (B9D2) XP_011525651.1:n.*17C>A
XM_011527350.1:c.*17C>A (B9D2) XP_011525652.1:n.*17C>A
XM_011527349.2:c.*17C>A (B9D2) XP_011525651.1:n.*17C>A
XM_011527350.2:c.*17C>A (B9D2) XP_011525652.1:n.*17C>A
NM_030578.4:c.*17C>A (B9D2) MANE Select NP_085055.2:n.*17C>A