Canonical Allele Identifier: CA799688632

Gene: FAM13A

Linked Data

• dbSNP Id: rs1449383670
• gnomAD v3: 4-88890103-T-C
• gnomAD v4: 4-88890103-T-C
• MyVariant Identifiers: chr4:g.89811254T>C (hg19) ; chr4:g.88890103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88890103T>C , CM000666.2:g.88890103T>C	GRCh38
NC_000004.11:g.89811254T>C , CM000666.1:g.89811254T>C	GRCh37
NC_000004.10:g.90030277T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264344.10:c.843+16276A>G MANE Select	ENSP00000264344.5:n.843+16276A>G
ENST00000264344.9:c.843+16276A>G	ENSP00000264344.5:n.843+16276A>G
ENST00000502459.5:n.1301+16276A>G
ENST00000511145.1:n.226+15583A>G
ENST00000511976.5:c.216+16276A>G	ENSP00000421914.1:n.216+16276A>G
ENST00000512339.5:c.*212+16276A>G	ENSP00000423800.1:n.*212+16276A>G
NM_014883.3:c.843+16276A>G	NP_055698.2:n.843+16276A>G
XM_005262681.2:c.843+16276A>G	XP_005262738.1:n.843+16276A>G
XM_005262682.2:c.783+16276A>G	XP_005262739.1:n.783+16276A>G
XM_005262683.2:c.843+16276A>G	XP_005262740.1:n.843+16276A>G
XM_005262684.2:c.216+16276A>G	XP_005262741.1:n.216+16276A>G
XM_006714057.2:c.276+16276A>G	XP_006714120.1:n.276+16276A>G
XM_011531516.1:c.843+16276A>G	XP_011529818.1:n.843+16276A>G
XM_011531517.1:c.760-38920A>G	XP_011529819.1:n.760-38920A>G
XM_011531518.1:c.285+16276A>G	XP_011529820.1:n.285+16276A>G
XM_011531519.1:c.285+16276A>G	XP_011529821.1:n.285+16276A>G
XM_011531520.1:c.216+16276A>G	XP_011529822.1:n.216+16276A>G
XM_005262681.3:c.843+16276A>G	XP_005262738.1:n.843+16276A>G
XM_005262683.3:c.843+16276A>G	XP_005262740.1:n.843+16276A>G
XM_005262684.4:c.216+16276A>G	XP_005262741.1:n.216+16276A>G
XM_006714057.3:c.276+16276A>G	XP_006714120.1:n.276+16276A>G
XM_011531517.2:c.760-38920A>G	XP_011529819.1:n.760-38920A>G
XM_011531519.3:c.285+16276A>G	XP_011529821.1:n.285+16276A>G
XM_017007624.2:c.843+16276A>G	XP_016863113.1:n.843+16276A>G
XM_017007625.1:c.678+16276A>G	XP_016863114.1:n.678+16276A>G
XM_017007626.1:c.312+16276A>G	XP_016863115.1:n.312+16276A>G
XM_017007627.1:c.216+16276A>G	XP_016863116.1:n.216+16276A>G
XM_017007628.2:c.216+16276A>G	XP_016863117.1:n.216+16276A>G
XM_017007629.2:c.27+16276A>G	XP_016863118.1:n.27+16276A>G
XM_017007630.2:c.27+16276A>G	XP_016863119.1:n.27+16276A>G
XM_017007631.2:c.27+16276A>G	XP_016863120.1:n.27+16276A>G
XM_017007632.2:c.27+16276A>G	XP_016863121.1:n.27+16276A>G
XM_017007633.2:c.-120-38920A>G	XP_016863122.1:n.-120-38920A>G
XM_024453870.1:c.843+16276A>G	XP_024309638.1:n.843+16276A>G
NM_014883.4:c.843+16276A>G MANE Select	NP_055698.2:n.843+16276A>G