Canonical Allele Identifier: CA2601587168

Gene: FAM13A

Linked Data

• gnomAD v3: 4-88995982-C-T
• gnomAD v4: 4-88995982-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88995982C>T , CM000666.2:g.88995982C>T	GRCh38
NC_000004.11:g.89917133C>T , CM000666.1:g.89917133C>T	GRCh37
NC_000004.10:g.90136156C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264344.10:c.428-4832G>A MANE Select	ENSP00000264344.5:n.428-4832G>A
ENST00000264344.9:c.428-4832G>A	ENSP00000264344.5:n.428-4832G>A
ENST00000502459.5:n.886-4832G>A
ENST00000509094.5:c.428-4832G>A	ENSP00000426517.1:n.428-4832G>A
ENST00000511976.5:c.-23+24478G>A	ENSP00000421914.1:n.-23+24478G>A
ENST00000512339.5:c.427+24478G>A	ENSP00000423800.1:n.427+24478G>A
ENST00000515600.1:c.428-4832G>A	ENSP00000422345.1:n.428-4832G>A
NM_014883.3:c.428-4832G>A	NP_055698.2:n.428-4832G>A
XM_005262681.2:c.428-4832G>A	XP_005262738.1:n.428-4832G>A
XM_005262682.2:c.368-4832G>A	XP_005262739.1:n.368-4832G>A
XM_005262683.2:c.428-4832G>A	XP_005262740.1:n.428-4832G>A
XM_005262684.2:c.-23+24478G>A	XP_005262741.1:n.-23+24478G>A
XM_011531516.1:c.428-4832G>A	XP_011529818.1:n.428-4832G>A
XM_011531517.1:c.428-4832G>A	XP_011529819.1:n.428-4832G>A
XM_011531518.1:c.-131-4832G>A	XP_011529820.1:n.-131-4832G>A
XM_011531519.1:c.-131-4832G>A	XP_011529821.1:n.-131-4832G>A
XM_011531520.1:c.-23+22908G>A	XP_011529822.1:n.-23+22908G>A
XM_005262681.3:c.428-4832G>A	XP_005262738.1:n.428-4832G>A
XM_005262683.3:c.428-4832G>A	XP_005262740.1:n.428-4832G>A
XM_005262684.4:c.-23+24478G>A	XP_005262741.1:n.-23+24478G>A
XM_011531517.2:c.428-4832G>A	XP_011529819.1:n.428-4832G>A
XM_011531519.3:c.-131-4832G>A	XP_011529821.1:n.-131-4832G>A
XM_017007624.2:c.428-4832G>A	XP_016863113.1:n.428-4832G>A
XM_017007625.1:c.263-4832G>A	XP_016863114.1:n.263-4832G>A
XM_017007626.1:c.74+22908G>A	XP_016863115.1:n.74+22908G>A
XM_017007627.1:c.-23+24478G>A	XP_016863116.1:n.-23+24478G>A
XM_017007628.2:c.-23+24478G>A	XP_016863117.1:n.-23+24478G>A
XM_017007629.2:c.-2163-4832G>A	XP_016863118.1:n.-2163-4832G>A
XM_017007630.2:c.-58+24478G>A	XP_016863119.1:n.-58+24478G>A
XM_017007631.2:c.-2163-4832G>A	XP_016863120.1:n.-2163-4832G>A
XM_017007632.2:c.-58+24478G>A	XP_016863121.1:n.-58+24478G>A
XM_017007633.2:c.-2226-4832G>A	XP_016863122.1:n.-2226-4832G>A
XM_024453870.1:c.428-4832G>A	XP_024309638.1:n.428-4832G>A
NM_014883.4:c.428-4832G>A MANE Select	NP_055698.2:n.428-4832G>A