Canonical Allele Identifier: CA799688622

Gene: FAM13A

Linked Data

• dbSNP Id: rs1246985757
• gnomAD v3: 4-88890088-A-G
• gnomAD v4: 4-88890088-A-G
• MyVariant Identifiers: chr4:g.89811239A>G (hg19) ; chr4:g.88890088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88890088A>G , CM000666.2:g.88890088A>G	GRCh38
NC_000004.11:g.89811239A>G , CM000666.1:g.89811239A>G	GRCh37
NC_000004.10:g.90030262A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264344.10:c.843+16291T>C MANE Select	ENSP00000264344.5:n.843+16291T>C
ENST00000264344.9:c.843+16291T>C	ENSP00000264344.5:n.843+16291T>C
ENST00000502459.5:n.1301+16291T>C
ENST00000511145.1:n.226+15598T>C
ENST00000511976.5:c.216+16291T>C	ENSP00000421914.1:n.216+16291T>C
ENST00000512339.5:c.*212+16291T>C	ENSP00000423800.1:n.*212+16291T>C
NM_014883.3:c.843+16291T>C	NP_055698.2:n.843+16291T>C
XM_005262681.2:c.843+16291T>C	XP_005262738.1:n.843+16291T>C
XM_005262682.2:c.783+16291T>C	XP_005262739.1:n.783+16291T>C
XM_005262683.2:c.843+16291T>C	XP_005262740.1:n.843+16291T>C
XM_005262684.2:c.216+16291T>C	XP_005262741.1:n.216+16291T>C
XM_006714057.2:c.276+16291T>C	XP_006714120.1:n.276+16291T>C
XM_011531516.1:c.843+16291T>C	XP_011529818.1:n.843+16291T>C
XM_011531517.1:c.760-38905T>C	XP_011529819.1:n.760-38905T>C
XM_011531518.1:c.285+16291T>C	XP_011529820.1:n.285+16291T>C
XM_011531519.1:c.285+16291T>C	XP_011529821.1:n.285+16291T>C
XM_011531520.1:c.216+16291T>C	XP_011529822.1:n.216+16291T>C
XM_005262681.3:c.843+16291T>C	XP_005262738.1:n.843+16291T>C
XM_005262683.3:c.843+16291T>C	XP_005262740.1:n.843+16291T>C
XM_005262684.4:c.216+16291T>C	XP_005262741.1:n.216+16291T>C
XM_006714057.3:c.276+16291T>C	XP_006714120.1:n.276+16291T>C
XM_011531517.2:c.760-38905T>C	XP_011529819.1:n.760-38905T>C
XM_011531519.3:c.285+16291T>C	XP_011529821.1:n.285+16291T>C
XM_017007624.2:c.843+16291T>C	XP_016863113.1:n.843+16291T>C
XM_017007625.1:c.678+16291T>C	XP_016863114.1:n.678+16291T>C
XM_017007626.1:c.312+16291T>C	XP_016863115.1:n.312+16291T>C
XM_017007627.1:c.216+16291T>C	XP_016863116.1:n.216+16291T>C
XM_017007628.2:c.216+16291T>C	XP_016863117.1:n.216+16291T>C
XM_017007629.2:c.27+16291T>C	XP_016863118.1:n.27+16291T>C
XM_017007630.2:c.27+16291T>C	XP_016863119.1:n.27+16291T>C
XM_017007631.2:c.27+16291T>C	XP_016863120.1:n.27+16291T>C
XM_017007632.2:c.27+16291T>C	XP_016863121.1:n.27+16291T>C
XM_017007633.2:c.-120-38905T>C	XP_016863122.1:n.-120-38905T>C
XM_024453870.1:c.843+16291T>C	XP_024309638.1:n.843+16291T>C
NM_014883.4:c.843+16291T>C MANE Select	NP_055698.2:n.843+16291T>C