Canonical Allele Identifier: CA2839511305

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354520A>G , CM000681.2:g.41354520A>G GRCh38
NC_000019.9:g.41860425A>G , CM000681.1:g.41860425A>G GRCh37
NC_000019.8:g.46552265A>G NCBI36
NG_013091.1:g.14654T>C
NG_013364.1:g.4407T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.*180T>C (B9D2) MANE Select ENSP00000243578.2:n.*180T>C
ENST00000675972.1:c.*180T>C (B9D2) ENSP00000501911.1:n.*180T>C
ENST00000243578.7:c.*180T>C (B9D2) ENSP00000243578.2:n.*180T>C
ENST00000539627.5:c.-30+3318A>G (TMEM91) ENSP00000441900.1:n.-30+3318A>G
ENST00000604123.5:c.142+205A>G (TMEM91) ENSP00000474871.1:n.142+205A>G
ENST00000604424.1:n.350+3318A>G
NM_030578.3:c.*180T>C (B9D2) NP_085055.2:n.*180T>C
XM_006723405.1:c.*180T>C (B9D2) XP_006723468.1:n.*180T>C
XM_011527349.1:c.*180T>C (B9D2) XP_011525651.1:n.*180T>C
XM_011527350.1:c.*180T>C (B9D2) XP_011525652.1:n.*180T>C
XM_011527349.2:c.*180T>C (B9D2) XP_011525651.1:n.*180T>C
XM_011527350.2:c.*180T>C (B9D2) XP_011525652.1:n.*180T>C
NM_030578.4:c.*180T>C (B9D2) MANE Select NP_085055.2:n.*180T>C