Canonical Allele Identifier: CA2814433795

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364069C>G , CM000681.2:g.41364069C>G GRCh38
NC_000019.9:g.41869974C>G , CM000681.1:g.41869974C>G GRCh37
NC_000019.8:g.46561814C>G NCBI36
NG_013091.1:g.5105G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-116G>C (B9D2) MANE Select ENSP00000243578.2:n.-116G>C
ENST00000243578.7:c.-116G>C (B9D2) ENSP00000243578.2:n.-116G>C
ENST00000413014.6:c.-56C>G (TMEM91) ENSP00000413192.2:n.-56C>G
ENST00000539627.5:c.-30+12867C>G (TMEM91) ENSP00000441900.1:n.-30+12867C>G
ENST00000594416.1:c.-116G>C (B9D2) ENSP00000469666.1:n.-116G>C
ENST00000601597.1:n.24G>C (B9D2)
ENST00000604123.5:c.142+9754C>G (TMEM91) ENSP00000474871.1:n.142+9754C>G
ENST00000604424.1:n.350+12867C>G
NM_001098825.1:c.-56C>G (TMEM91) NP_001092295.1:n.-56C>G
NM_030578.3:c.-116G>C (B9D2) NP_085055.2:n.-116G>C
XM_006723405.1:c.-116G>C (B9D2) XP_006723468.1:n.-116G>C
XM_011527350.1:c.-183G>C (B9D2) XP_011525652.1:n.-183G>C
XM_011527350.2:c.-183G>C (B9D2) XP_011525652.1:n.-183G>C
NM_030578.4:c.-116G>C (B9D2) MANE Select NP_085055.2:n.-116G>C
NM_001369864.1:c.-313C>G (TMEM91) NP_001356793.1:n.-313C>G
NM_001098825.2:c.-56C>G (TMEM91) NP_001092295.1:n.-56C>G