Canonical Allele Identifier: CA2336427550

Linked Data

dbSNP Id: rs2038298832

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355481C>G , CM000681.2:g.41355481C>G GRCh38
NC_000019.9:g.41861386C>G , CM000681.1:g.41861386C>G GRCh37
NC_000019.8:g.46553226C>G NCBI36
NG_013091.1:g.13693G>C
NG_013364.1:g.3446G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.215-468G>C (B9D2) MANE Select ENSP00000243578.2:n.215-468G>C
ENST00000675972.1:c.215-468G>C (B9D2) ENSP00000501911.1:n.215-468G>C
ENST00000243578.7:c.215-468G>C (B9D2) ENSP00000243578.2:n.215-468G>C
ENST00000539627.5:c.-30+4279C>G (TMEM91) ENSP00000441900.1:n.-30+4279C>G
ENST00000594416.1:c.*61-468G>C (B9D2) ENSP00000469666.1:n.*61-468G>C
ENST00000604123.5:c.142+1166C>G (TMEM91) ENSP00000474871.1:n.142+1166C>G
ENST00000604424.1:n.350+4279C>G
NM_030578.3:c.215-468G>C (B9D2) NP_085055.2:n.215-468G>C
XM_006723405.1:c.89-468G>C (B9D2) XP_006723468.1:n.89-468G>C
XM_011527349.1:c.215-468G>C (B9D2) XP_011525651.1:n.215-468G>C
XM_011527350.1:c.56-468G>C (B9D2) XP_011525652.1:n.56-468G>C
XM_011527349.2:c.215-468G>C (B9D2) XP_011525651.1:n.215-468G>C
XM_011527350.2:c.56-468G>C (B9D2) XP_011525652.1:n.56-468G>C
NM_030578.4:c.215-468G>C (B9D2) MANE Select NP_085055.2:n.215-468G>C