Canonical Allele Identifier: CA507560766

Linked Data

MyVariant Identifiers: chr19:g.41869368A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363463A>G , CM000681.2:g.41363463A>G GRCh38
NC_000019.9:g.41869368A>G , CM000681.1:g.41869368A>G GRCh37
NC_000019.8:g.46561208A>G NCBI36
NG_013091.1:g.5711T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.57T>C (B9D2) MANE Select ENSP00000243578.2:p.Ser19=
ENST00000675972.1:c.57T>C (B9D2) ENSP00000501911.1:p.Ser19=
ENST00000243578.7:c.57T>C (B9D2) ENSP00000243578.2:p.Ser19=
ENST00000539627.5:c.-30+12261A>G (TMEM91) ENSP00000441900.1:n.-30+12261A>G
ENST00000594416.1:c.57T>C (B9D2) ENSP00000469666.1:p.Ser19=
ENST00000601597.1:n.196T>C (B9D2)
ENST00000604123.5:c.142+9148A>G (TMEM91) ENSP00000474871.1:n.142+9148A>G
ENST00000604424.1:n.350+12261A>G
NM_030578.3:c.57T>C (B9D2) NP_085055.2:p.Ser19=
XM_006723405.1:c.57T>C (B9D2) XP_006723468.1:p.Ser19=
XM_011527349.1:c.57T>C (B9D2) XP_011525651.1:p.Ser19=
XM_011527350.1:c.-72+495T>C (B9D2) XP_011525652.1:n.-72+495T>C
XM_011527349.2:c.57T>C (B9D2) XP_011525651.1:p.Ser19=
XM_011527350.2:c.-72+495T>C (B9D2) XP_011525652.1:n.-72+495T>C
NM_030578.4:c.57T>C (B9D2) MANE Select NP_085055.2:p.Ser19=