Canonical Allele Identifier: CA9351904
Gene: C19orf12 HGNC NCBI

Linked Data

dbSNP Id: rs751031553

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29702896G>A , CM000681.2:g.29702896G>A GRCh38
NC_000019.9:g.30193803G>A , CM000681.1:g.30193803G>A GRCh37
NC_000019.8:g.34885643G>A NCBI36
NG_031970.1:g.17894C>T
NG_031970.2:g.17894C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614091.5:c.242C>T ENSP00000482097.2:p.Pro81Leu
ENST00000623113.3:c.242C>T ENSP00000485413.2:p.Pro81Leu
ENST00000323670.14:c.242C>T MANE Select ENSP00000313332.9:p.Pro81Leu
ENST00000323670.13:c.242C>T ENSP00000313332.8:p.Pro81Leu
ENST00000342680.5:c.*156C>T ENSP00000345497.5:n.*156C>T
ENST00000392275.1:n.633C>T
ENST00000392276.1:c.50C>T ENSP00000376102.1:p.Pro17Leu
ENST00000392278.2:c.275C>T ENSP00000376103.2:p.Pro92Leu
ENST00000591243.1:c.242C>T ENSP00000467516.1:p.Pro81Leu
ENST00000592153.5:c.242C>T ENSP00000467117.1:p.Pro81Leu
ENST00000614091.4:c.242C>T ENSP00000482097.1:p.Pro81Leu
ENST00000623113.1:c.50C>T ENSP00000485413.1:p.Pro17Leu
NM_001031726.3:c.275C>T NP_001026896.2:p.Pro92Leu
NM_001256046.1:c.242C>T NP_001242975.1:p.Pro81Leu
NM_001256047.1:c.242C>T NP_001242976.1:p.Pro81Leu
NM_001282929.1:c.50C>T NP_001269858.1:p.Pro17Leu
NM_001282930.1:c.50C>T NP_001269859.1:p.Pro17Leu
NM_001282931.1:c.50C>T NP_001269860.1:p.Pro17Leu
NM_031448.4:c.242C>T NP_113636.2:p.Pro81Leu
XM_024451734.1:c.404C>T XP_024307502.1:p.Pro135Leu
XM_024451735.1:c.242C>T XP_024307503.1:p.Pro81Leu
XM_024451736.1:c.242C>T XP_024307504.1:p.Pro81Leu
XM_024451737.1:c.242C>T XP_024307505.1:p.Pro81Leu
XM_024451738.1:c.242C>T XP_024307506.1:p.Pro81Leu
NM_001256046.2:c.242C>T NP_001242975.1:p.Pro81Leu
NM_001282930.2:c.50C>T NP_001269859.1:p.Pro17Leu
NM_001282931.2:c.50C>T NP_001269860.1:p.Pro17Leu
NM_031448.6:c.242C>T MANE Select NP_113636.2:p.Pro81Leu
NM_001031726.4:c.242C>T NP_001026896.3:p.Pro81Leu
NM_001256046.3:c.242C>T NP_001242975.1:p.Pro81Leu
NM_001256047.2:c.242C>T NP_001242976.1:p.Pro81Leu
NM_001282930.3:c.50C>T NP_001269859.1:p.Pro17Leu
NM_001282931.3:c.50C>T NP_001269860.1:p.Pro17Leu