Canonical Allele Identifier: CA2585299004

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354603A>G , CM000681.2:g.41354603A>G GRCh38
NC_000019.9:g.41860508A>G , CM000681.1:g.41860508A>G GRCh37
NC_000019.8:g.46552348A>G NCBI36
NG_013091.1:g.14571T>C
NG_013364.1:g.4324T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.*97T>C (B9D2) MANE Select ENSP00000243578.2:n.*97T>C
ENST00000675972.1:c.*97T>C (B9D2) ENSP00000501911.1:n.*97T>C
ENST00000243578.7:c.*97T>C (B9D2) ENSP00000243578.2:n.*97T>C
ENST00000539627.5:c.-30+3401A>G (TMEM91) ENSP00000441900.1:n.-30+3401A>G
ENST00000604123.5:c.142+288A>G (TMEM91) ENSP00000474871.1:n.142+288A>G
ENST00000604424.1:n.350+3401A>G
NM_030578.3:c.*97T>C (B9D2) NP_085055.2:n.*97T>C
XM_006723405.1:c.*97T>C (B9D2) XP_006723468.1:n.*97T>C
XM_011527349.1:c.*97T>C (B9D2) XP_011525651.1:n.*97T>C
XM_011527350.1:c.*97T>C (B9D2) XP_011525652.1:n.*97T>C
XM_011527349.2:c.*97T>C (B9D2) XP_011525651.1:n.*97T>C
XM_011527350.2:c.*97T>C (B9D2) XP_011525652.1:n.*97T>C
NM_030578.4:c.*97T>C (B9D2) MANE Select NP_085055.2:n.*97T>C