Canonical Allele Identifier: CA2585300363

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364019T>C , CM000681.2:g.41364019T>C GRCh38
NC_000019.9:g.41869924T>C , CM000681.1:g.41869924T>C GRCh37
NC_000019.8:g.46561764T>C NCBI36
NG_013091.1:g.5155A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-66A>G (B9D2) MANE Select ENSP00000243578.2:n.-66A>G
ENST00000243578.7:c.-66A>G (B9D2) ENSP00000243578.2:n.-66A>G
ENST00000539627.5:c.-30+12817T>C (TMEM91) ENSP00000441900.1:n.-30+12817T>C
ENST00000594416.1:c.-66A>G (B9D2) ENSP00000469666.1:n.-66A>G
ENST00000601597.1:n.74A>G (B9D2)
ENST00000604123.5:c.142+9704T>C (TMEM91) ENSP00000474871.1:n.142+9704T>C
ENST00000604424.1:n.350+12817T>C
NM_001098825.1:c.-106T>C (TMEM91) NP_001092295.1:n.-106T>C
NM_030578.3:c.-66A>G (B9D2) NP_085055.2:n.-66A>G
XM_006723405.1:c.-66A>G (B9D2) XP_006723468.1:n.-66A>G
XM_011527350.1:c.-133A>G (B9D2) XP_011525652.1:n.-133A>G
XM_011527350.2:c.-133A>G (B9D2) XP_011525652.1:n.-133A>G
NM_030578.4:c.-66A>G (B9D2) MANE Select NP_085055.2:n.-66A>G
NM_001369864.1:c.-363T>C (TMEM91) NP_001356793.1:n.-363T>C
NM_001098825.2:c.-106T>C (TMEM91) NP_001092295.1:n.-106T>C