Canonical Allele Identifier: CA2336427170

Linked Data

dbSNP Id: rs761684814

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354696T>A , CM000681.2:g.41354696T>A GRCh38
NC_000019.9:g.41860601T>A , CM000681.1:g.41860601T>A GRCh37
NC_000019.8:g.46552441T>A NCBI36
NG_013091.1:g.14478A>T
NG_013364.1:g.4231A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.*4A>T (B9D2) MANE Select ENSP00000243578.2:n.*4A>T
ENST00000675972.1:c.*4A>T (B9D2) ENSP00000501911.1:n.*4A>T
ENST00000243578.7:c.*4A>T (B9D2) ENSP00000243578.2:n.*4A>T
ENST00000539627.5:c.-30+3494T>A (TMEM91) ENSP00000441900.1:n.-30+3494T>A
ENST00000594416.1:c.*378A>T (B9D2) ENSP00000469666.1:n.*378A>T
ENST00000604123.5:c.142+381T>A (TMEM91) ENSP00000474871.1:n.142+381T>A
ENST00000604424.1:n.350+3494T>A
NM_030578.3:c.*4A>T (B9D2) NP_085055.2:n.*4A>T
XM_006723405.1:c.*4A>T (B9D2) XP_006723468.1:n.*4A>T
XM_011527349.1:c.*4A>T (B9D2) XP_011525651.1:n.*4A>T
XM_011527350.1:c.*4A>T (B9D2) XP_011525652.1:n.*4A>T
XM_011527349.2:c.*4A>T (B9D2) XP_011525651.1:n.*4A>T
XM_011527350.2:c.*4A>T (B9D2) XP_011525652.1:n.*4A>T
NM_030578.4:c.*4A>T (B9D2) MANE Select NP_085055.2:n.*4A>T