Canonical Allele Identifier: CA405143017
Gene: C19orf12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1299224
dbSNP Id: rs1972180871

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29702870T>C , CM000681.2:g.29702870T>C GRCh38
NC_000019.9:g.30193777T>C , CM000681.1:g.30193777T>C GRCh37
NC_000019.8:g.34885617T>C NCBI36
NG_031970.1:g.17920A>G
NG_031970.2:g.17920A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614091.5:c.268A>G ENSP00000482097.2:p.Asn90Asp
ENST00000623113.3:c.268A>G ENSP00000485413.2:p.Asn90Asp
ENST00000323670.14:c.268A>G MANE Select ENSP00000313332.9:p.Asn90Asp
ENST00000323670.13:c.268A>G ENSP00000313332.8:p.Asn90Asp
ENST00000342680.5:c.*182A>G ENSP00000345497.5:n.*182A>G
ENST00000392275.1:n.659A>G
ENST00000392276.1:c.76A>G ENSP00000376102.1:p.Asn26Asp
ENST00000392278.2:c.301A>G ENSP00000376103.2:p.Asn101Asp
ENST00000591243.1:c.268A>G ENSP00000467516.1:p.Asn90Asp
ENST00000592153.5:c.268A>G ENSP00000467117.1:p.Asn90Asp
ENST00000614091.4:c.268A>G ENSP00000482097.1:p.Asn90Asp
ENST00000623113.1:c.76A>G ENSP00000485413.1:p.Asn26Asp
NM_001031726.3:c.301A>G NP_001026896.2:p.Asn101Asp
NM_001256046.1:c.268A>G NP_001242975.1:p.Asn90Asp
NM_001256047.1:c.268A>G NP_001242976.1:p.Asn90Asp
NM_001282929.1:c.76A>G NP_001269858.1:p.Asn26Asp
NM_001282930.1:c.76A>G NP_001269859.1:p.Asn26Asp
NM_001282931.1:c.76A>G NP_001269860.1:p.Asn26Asp
NM_031448.4:c.268A>G NP_113636.2:p.Asn90Asp
XM_024451734.1:c.430A>G XP_024307502.1:p.Asn144Asp
XM_024451735.1:c.268A>G XP_024307503.1:p.Asn90Asp
XM_024451736.1:c.268A>G XP_024307504.1:p.Asn90Asp
XM_024451737.1:c.268A>G XP_024307505.1:p.Asn90Asp
XM_024451738.1:c.268A>G XP_024307506.1:p.Asn90Asp
NM_001256046.2:c.268A>G NP_001242975.1:p.Asn90Asp
NM_001282930.2:c.76A>G NP_001269859.1:p.Asn26Asp
NM_001282931.2:c.76A>G NP_001269860.1:p.Asn26Asp
NM_031448.6:c.268A>G MANE Select NP_113636.2:p.Asn90Asp
NM_001031726.4:c.268A>G NP_001026896.3:p.Asn90Asp
NM_001256046.3:c.268A>G NP_001242975.1:p.Asn90Asp
NM_001256047.2:c.268A>G NP_001242976.1:p.Asn90Asp
NM_001282930.3:c.76A>G NP_001269859.1:p.Asn26Asp
NM_001282931.3:c.76A>G NP_001269860.1:p.Asn26Asp