Canonical Allele Identifier: CA15317967
Gene: FAM13A HGNC NCBI

Linked Data

ClinVar Variation Id: 1162779
ClinVar RCV Id: RCV001788481 RCV001788482 RCV002472378
dbSNP Id: rs2609255
gnomAD v2: 4-89811195-G-T
gnomAD v3: 4-88890044-G-T
gnomAD v4: 4-88890044-G-T
MyVariant Identifiers: chr4:g.89811195G>T (hg19) chr4:g.88890044G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88890044G>T , CM000666.2:g.88890044G>T GRCh38
NC_000004.11:g.89811195G>T , CM000666.1:g.89811195G>T GRCh37
NC_000004.10:g.90030218G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000264344.10:c.843+16335C>A MANE Select ENSP00000264344.5:n.843+16335C>A
ENST00000264344.9:c.843+16335C>A ENSP00000264344.5:n.843+16335C>A
ENST00000502459.5:n.1301+16335C>A
ENST00000511145.1:n.226+15642C>A
ENST00000511976.5:c.216+16335C>A ENSP00000421914.1:n.216+16335C>A
ENST00000512339.5:c.*212+16335C>A ENSP00000423800.1:n.*212+16335C>A
NM_014883.3:c.843+16335C>A NP_055698.2:n.843+16335C>A
XM_005262681.2:c.843+16335C>A XP_005262738.1:n.843+16335C>A
XM_005262682.2:c.783+16335C>A XP_005262739.1:n.783+16335C>A
XM_005262683.2:c.843+16335C>A XP_005262740.1:n.843+16335C>A
XM_005262684.2:c.216+16335C>A XP_005262741.1:n.216+16335C>A
XM_006714057.2:c.276+16335C>A XP_006714120.1:n.276+16335C>A
XM_011531516.1:c.843+16335C>A XP_011529818.1:n.843+16335C>A
XM_011531517.1:c.760-38861C>A XP_011529819.1:n.760-38861C>A
XM_011531518.1:c.285+16335C>A XP_011529820.1:n.285+16335C>A
XM_011531519.1:c.285+16335C>A XP_011529821.1:n.285+16335C>A
XM_011531520.1:c.216+16335C>A XP_011529822.1:n.216+16335C>A
XM_005262681.3:c.843+16335C>A XP_005262738.1:n.843+16335C>A
XM_005262683.3:c.843+16335C>A XP_005262740.1:n.843+16335C>A
XM_005262684.4:c.216+16335C>A XP_005262741.1:n.216+16335C>A
XM_006714057.3:c.276+16335C>A XP_006714120.1:n.276+16335C>A
XM_011531517.2:c.760-38861C>A XP_011529819.1:n.760-38861C>A
XM_011531519.3:c.285+16335C>A XP_011529821.1:n.285+16335C>A
XM_017007624.2:c.843+16335C>A XP_016863113.1:n.843+16335C>A
XM_017007625.1:c.678+16335C>A XP_016863114.1:n.678+16335C>A
XM_017007626.1:c.312+16335C>A XP_016863115.1:n.312+16335C>A
XM_017007627.1:c.216+16335C>A XP_016863116.1:n.216+16335C>A
XM_017007628.2:c.216+16335C>A XP_016863117.1:n.216+16335C>A
XM_017007629.2:c.27+16335C>A XP_016863118.1:n.27+16335C>A
XM_017007630.2:c.27+16335C>A XP_016863119.1:n.27+16335C>A
XM_017007631.2:c.27+16335C>A XP_016863120.1:n.27+16335C>A
XM_017007632.2:c.27+16335C>A XP_016863121.1:n.27+16335C>A
XM_017007633.2:c.-120-38861C>A XP_016863122.1:n.-120-38861C>A
XM_024453870.1:c.843+16335C>A XP_024309638.1:n.843+16335C>A
NM_014883.4:c.843+16335C>A MANE Select NP_055698.2:n.843+16335C>A
Search 100 bp 5'
Search 100 bp 3'