Canonical Allele Identifier: CA9463659

Gene: CEACAM5

Linked Data

• dbSNP Id: rs10407503
• ExAC: 19:42221434 C / G
• gnomAD v2: 19-42221434-C-G
• MyVariant Identifiers: chr19:g.42221434C>G (hg19) ; chr19:g.41717515C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41717515C>G , CM000681.2:g.41717515C>G	GRCh38
NC_000019.9:g.42221434C>G , CM000681.1:g.42221434C>G	GRCh37
NC_000019.8:g.46913274C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000221992.11:c.1019C>G MANE Select	ENSP00000221992.5:p.Ala340Gly
ENST00000221992.10:c.1019C>G	ENSP00000221992.5:p.Ala340Gly
ENST00000398599.8:c.1016C>G	ENSP00000381600.4:p.Ala339Gly
ENST00000405816.5:c.1019C>G	ENSP00000385072.1:p.Ala340Gly
ENST00000435837.2:c.64+8720C>G	ENSP00000469926.1:n.64+8720C>G
ENST00000595113.1:c.466C>G
ENST00000595403.1:c.325-2415C>G
ENST00000598976.1:c.424+7476C>G	ENSP00000469421.1:n.424+7476C>G
ENST00000615021.4:c.485C>G	ENSP00000482157.1:p.Ala162Gly
ENST00000616453.1:c.612+2357C>G	ENSP00000480800.1:n.612+2357C>G
ENST00000617332.4:c.1019C>G	ENSP00000482303.1:p.Ala340Gly
NM_001291484.1:c.1019C>G	NP_001278413.1:p.Ala340Gly
NM_001291484.2:c.1019C>G	NP_001278413.1:p.Ala340Gly
NM_001308398.1:c.1016C>G	NP_001295327.1:p.Ala339Gly
NM_004363.4:c.1019C>G	NP_004354.3:p.Ala340Gly
NM_004363.5:c.1019C>G	NP_004354.3:p.Ala340Gly
XM_005258413.3:c.1019C>G	XP_005258470.2:p.Ala340Gly
XM_011526322.1:c.704-613C>G	XP_011524624.1:n.704-613C>G
XM_011526322.2:c.704-613C>G	XP_011524624.1:n.704-613C>G
XM_017026145.2:c.1016C>G	XP_016881634.1:p.Ala339Gly
XM_017026146.2:c.764C>G	XP_016881635.1:p.Ala255Gly
NM_001291484.3:c.1019C>G	NP_001278413.1:p.Ala340Gly
NM_001308398.2:c.1016C>G	NP_001295327.1:p.Ala339Gly
NM_004363.6:c.1019C>G MANE Select	NP_004354.3:p.Ala340Gly