Canonical Allele Identifier: CA2585300373

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364032T>C , CM000681.2:g.41364032T>C GRCh38
NC_000019.9:g.41869937T>C , CM000681.1:g.41869937T>C GRCh37
NC_000019.8:g.46561777T>C NCBI36
NG_013091.1:g.5142A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-79A>G (B9D2) MANE Select ENSP00000243578.2:n.-79A>G
ENST00000243578.7:c.-79A>G (B9D2) ENSP00000243578.2:n.-79A>G
ENST00000539627.5:c.-30+12830T>C (TMEM91) ENSP00000441900.1:n.-30+12830T>C
ENST00000594416.1:c.-79A>G (B9D2) ENSP00000469666.1:n.-79A>G
ENST00000601597.1:n.61A>G (B9D2)
ENST00000604123.5:c.142+9717T>C (TMEM91) ENSP00000474871.1:n.142+9717T>C
ENST00000604424.1:n.350+12830T>C
NM_001098825.1:c.-93T>C (TMEM91) NP_001092295.1:n.-93T>C
NM_030578.3:c.-79A>G (B9D2) NP_085055.2:n.-79A>G
XM_006723405.1:c.-79A>G (B9D2) XP_006723468.1:n.-79A>G
XM_011527350.1:c.-146A>G (B9D2) XP_011525652.1:n.-146A>G
XM_011527350.2:c.-146A>G (B9D2) XP_011525652.1:n.-146A>G
NM_030578.4:c.-79A>G (B9D2) MANE Select NP_085055.2:n.-79A>G
NM_001369864.1:c.-350T>C (TMEM91) NP_001356793.1:n.-350T>C
NM_001098825.2:c.-93T>C (TMEM91) NP_001092295.1:n.-93T>C