Canonical Allele Identifier: CA507689844

Linked Data

MyVariant Identifiers: chr19:g.41860606C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354701C>T , CM000681.2:g.41354701C>T GRCh38
NC_000019.9:g.41860606C>T , CM000681.1:g.41860606C>T GRCh37
NC_000019.8:g.46552446C>T NCBI36
NG_013091.1:g.14473G>A
NG_013364.1:g.4226G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.527G>A (B9D2) MANE Select ENSP00000243578.2:p.Ter176=
ENST00000675972.1:c.527G>A (B9D2) ENSP00000501911.1:p.Ter176=
ENST00000243578.7:c.527G>A (B9D2) ENSP00000243578.2:p.Ter176=
ENST00000539627.5:c.-30+3499C>T (TMEM91) ENSP00000441900.1:n.-30+3499C>T
ENST00000594416.1:c.*373G>A (B9D2) ENSP00000469666.1:n.*373G>A
ENST00000604123.5:c.142+386C>T (TMEM91) ENSP00000474871.1:n.142+386C>T
ENST00000604424.1:n.350+3499C>T
NM_030578.3:c.527G>A (B9D2) NP_085055.2:p.Ter176=
XM_006723405.1:c.401G>A (B9D2) XP_006723468.1:p.Ter134=
XM_011527349.1:c.527G>A (B9D2) XP_011525651.1:p.Ter176=
XM_011527350.1:c.368G>A (B9D2) XP_011525652.1:p.Ter123=
XM_011527349.2:c.527G>A (B9D2) XP_011525651.1:p.Ter176=
XM_011527350.2:c.368G>A (B9D2) XP_011525652.1:p.Ter123=
NM_030578.4:c.527G>A (B9D2) MANE Select NP_085055.2:p.Ter176=