Canonical Allele Identifier: CA406012079

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363490G>C , CM000681.2:g.41363490G>C GRCh38
NC_000019.9:g.41869395G>C , CM000681.1:g.41869395G>C GRCh37
NC_000019.8:g.46561235G>C NCBI36
NG_013091.1:g.5684C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.30C>G (B9D2) MANE Select ENSP00000243578.2:p.Ile10Met
ENST00000675972.1:c.30C>G (B9D2) ENSP00000501911.1:p.Ile10Met
ENST00000243578.7:c.30C>G (B9D2) ENSP00000243578.2:p.Ile10Met
ENST00000539627.5:c.-30+12288G>C (TMEM91) ENSP00000441900.1:n.-30+12288G>C
ENST00000594416.1:c.30C>G (B9D2) ENSP00000469666.1:p.Ile10Met
ENST00000601597.1:n.169C>G (B9D2)
ENST00000604123.5:c.142+9175G>C (TMEM91) ENSP00000474871.1:n.142+9175G>C
ENST00000604424.1:n.350+12288G>C
NM_030578.3:c.30C>G (B9D2) NP_085055.2:p.Ile10Met
XM_006723405.1:c.30C>G (B9D2) XP_006723468.1:p.Ile10Met
XM_011527349.1:c.30C>G (B9D2) XP_011525651.1:p.Ile10Met
XM_011527350.1:c.-72+468C>G (B9D2) XP_011525652.1:n.-72+468C>G
XM_011527349.2:c.30C>G (B9D2) XP_011525651.1:p.Ile10Met
XM_011527350.2:c.-72+468C>G (B9D2) XP_011525652.1:n.-72+468C>G
NM_030578.4:c.30C>G (B9D2) MANE Select NP_085055.2:p.Ile10Met