Canonical Allele Identifier: CA306788772

Gene: C19orf12

Linked Data

• dbSNP Id: rs918228211
• gnomAD v2: 19-30199106-G-A
• gnomAD v3: 19-29708199-G-A
• gnomAD v4: 19-29708199-G-A
• MyVariant Identifiers: chr19:g.30199106G>A (hg19) ; chr19:g.29708199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29708199G>A , CM000681.2:g.29708199G>A	GRCh38
NC_000019.9:g.30199106G>A , CM000681.1:g.30199106G>A	GRCh37
NC_000019.8:g.34890946G>A	NCBI36
NG_031970.1:g.12591C>T
NG_031970.2:g.12591C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614091.5:c.160+55C>T	ENSP00000482097.2:n.160+55C>T
ENST00000623113.3:c.160+55C>T	ENSP00000485413.2:n.160+55C>T
ENST00000323670.14:c.160+55C>T MANE Select	ENSP00000313332.9:n.160+55C>T
ENST00000323670.13:c.160+55C>T	ENSP00000313332.8:n.160+55C>T
ENST00000342680.5:c.160+55C>T	ENSP00000345497.5:n.160+55C>T
ENST00000392275.1:n.552-5222C>T
ENST00000392276.1:c.-32-5222C>T	ENSP00000376102.1:n.-32-5222C>T
ENST00000392278.2:c.193+55C>T	ENSP00000376103.2:n.193+55C>T
ENST00000591243.1:c.160+55C>T	ENSP00000467516.1:n.160+55C>T
ENST00000592153.5:c.160+55C>T	ENSP00000467117.1:n.160+55C>T
ENST00000614091.4:c.160+55C>T	ENSP00000482097.1:n.160+55C>T
ENST00000623113.1:c.-32-5222C>T	ENSP00000485413.1:n.-32-5222C>T
NM_001031726.3:c.193+55C>T	NP_001026896.2:n.193+55C>T
NM_001256046.1:c.160+55C>T	NP_001242975.1:n.160+55C>T
NM_001256047.1:c.160+55C>T	NP_001242976.1:n.160+55C>T
NM_001282929.1:c.-32-5222C>T	NP_001269858.1:n.-32-5222C>T
NM_001282930.1:c.-32-5222C>T	NP_001269859.1:n.-32-5222C>T
NM_001282931.1:c.-154+55C>T	NP_001269860.1:n.-154+55C>T
NM_031448.4:c.160+55C>T	NP_113636.2:n.160+55C>T
XM_024451734.1:c.322+55C>T	XP_024307502.1:n.322+55C>T
XM_024451735.1:c.160+55C>T	XP_024307503.1:n.160+55C>T
XM_024451736.1:c.160+55C>T	XP_024307504.1:n.160+55C>T
XM_024451737.1:c.160+55C>T	XP_024307505.1:n.160+55C>T
XM_024451738.1:c.160+55C>T	XP_024307506.1:n.160+55C>T
NM_001256046.2:c.160+55C>T	NP_001242975.1:n.160+55C>T
NM_001282930.2:c.-32-5222C>T	NP_001269859.1:n.-32-5222C>T
NM_001282931.2:c.-154+55C>T	NP_001269860.1:n.-154+55C>T
NM_031448.6:c.160+55C>T MANE Select	NP_113636.2:n.160+55C>T
NM_001031726.4:c.160+55C>T	NP_001026896.3:n.160+55C>T
NM_001256046.3:c.160+55C>T	NP_001242975.1:n.160+55C>T
NM_001256047.2:c.160+55C>T	NP_001242976.1:n.160+55C>T
NM_001282930.3:c.-32-5222C>T	NP_001269859.1:n.-32-5222C>T
NM_001282931.3:c.-154+55C>T	NP_001269860.1:n.-154+55C>T