Canonical Allele Identifier: CA101427309

Gene: FAM13A

Linked Data

• dbSNP Id: rs931647407
• gnomAD v2: 4-89917109-C-T
• gnomAD v3: 4-88995958-C-T
• gnomAD v4: 4-88995958-C-T
• MyVariant Identifiers: chr4:g.89917109C>T (hg19) ; chr4:g.88995958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88995958C>T , CM000666.2:g.88995958C>T	GRCh38
NC_000004.11:g.89917109C>T , CM000666.1:g.89917109C>T	GRCh37
NC_000004.10:g.90136132C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264344.10:c.428-4808G>A MANE Select	ENSP00000264344.5:n.428-4808G>A
ENST00000264344.9:c.428-4808G>A	ENSP00000264344.5:n.428-4808G>A
ENST00000502459.5:n.886-4808G>A
ENST00000509094.5:c.428-4808G>A	ENSP00000426517.1:n.428-4808G>A
ENST00000511976.5:c.-23+24502G>A	ENSP00000421914.1:n.-23+24502G>A
ENST00000512339.5:c.427+24502G>A	ENSP00000423800.1:n.427+24502G>A
ENST00000515600.1:c.428-4808G>A	ENSP00000422345.1:n.428-4808G>A
NM_014883.3:c.428-4808G>A	NP_055698.2:n.428-4808G>A
XM_005262681.2:c.428-4808G>A	XP_005262738.1:n.428-4808G>A
XM_005262682.2:c.368-4808G>A	XP_005262739.1:n.368-4808G>A
XM_005262683.2:c.428-4808G>A	XP_005262740.1:n.428-4808G>A
XM_005262684.2:c.-23+24502G>A	XP_005262741.1:n.-23+24502G>A
XM_011531516.1:c.428-4808G>A	XP_011529818.1:n.428-4808G>A
XM_011531517.1:c.428-4808G>A	XP_011529819.1:n.428-4808G>A
XM_011531518.1:c.-131-4808G>A	XP_011529820.1:n.-131-4808G>A
XM_011531519.1:c.-131-4808G>A	XP_011529821.1:n.-131-4808G>A
XM_011531520.1:c.-23+22932G>A	XP_011529822.1:n.-23+22932G>A
XM_005262681.3:c.428-4808G>A	XP_005262738.1:n.428-4808G>A
XM_005262683.3:c.428-4808G>A	XP_005262740.1:n.428-4808G>A
XM_005262684.4:c.-23+24502G>A	XP_005262741.1:n.-23+24502G>A
XM_011531517.2:c.428-4808G>A	XP_011529819.1:n.428-4808G>A
XM_011531519.3:c.-131-4808G>A	XP_011529821.1:n.-131-4808G>A
XM_017007624.2:c.428-4808G>A	XP_016863113.1:n.428-4808G>A
XM_017007625.1:c.263-4808G>A	XP_016863114.1:n.263-4808G>A
XM_017007626.1:c.74+22932G>A	XP_016863115.1:n.74+22932G>A
XM_017007627.1:c.-23+24502G>A	XP_016863116.1:n.-23+24502G>A
XM_017007628.2:c.-23+24502G>A	XP_016863117.1:n.-23+24502G>A
XM_017007629.2:c.-2163-4808G>A	XP_016863118.1:n.-2163-4808G>A
XM_017007630.2:c.-58+24502G>A	XP_016863119.1:n.-58+24502G>A
XM_017007631.2:c.-2163-4808G>A	XP_016863120.1:n.-2163-4808G>A
XM_017007632.2:c.-58+24502G>A	XP_016863121.1:n.-58+24502G>A
XM_017007633.2:c.-2226-4808G>A	XP_016863122.1:n.-2226-4808G>A
XM_024453870.1:c.428-4808G>A	XP_024309638.1:n.428-4808G>A
NM_014883.4:c.428-4808G>A MANE Select	NP_055698.2:n.428-4808G>A