Canonical Allele Identifier: CA372468778

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728422-C-A
• MyVariant Identifiers: chr8:g.144810592C>A (hg19) ; chr8:g.143728422C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728422C>A , CM000670.2:g.143728422C>A	GRCh38
NC_000008.10:g.144810592C>A , CM000670.1:g.144810592C>A	GRCh37
NC_000008.9:g.144882580C>A	NCBI36
NG_016652.1:g.10323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1039G>T MANE Select	ENSP00000373565.3:p.Asp347Tyr
ENST00000650760.1:c.1642G>T	ENSP00000499217.1:p.Asp548Tyr
ENST00000388913.3:c.1039G>T	ENSP00000373565.3:p.Asp347Tyr
ENST00000395103.2:c.219G>T
NM_198488.3:c.1039G>T	NP_940890.3:p.Asp347Tyr
XM_005250887.2:c.1096G>T	XP_005250944.1:p.Asp366Tyr
XM_005250888.2:c.1057G>T	XP_005250945.1:p.Asp353Tyr
XM_005250889.2:c.1039G>T	XP_005250946.1:p.Asp347Tyr
XM_011516980.1:c.1360G>T	XP_011515282.1:p.Asp454Tyr
XM_011516981.1:c.1207G>T	XP_011515283.1:p.Asp403Tyr
XM_005250887.3:c.1096G>T	XP_005250944.1:p.Asp366Tyr
XM_005250888.3:c.1057G>T	XP_005250945.1:p.Asp353Tyr
XM_005250889.3:c.1039G>T	XP_005250946.1:p.Asp347Tyr
XM_011516980.2:c.1642G>T	XP_011515282.2:p.Asp548Tyr
XM_011516981.2:c.1207G>T	XP_011515283.1:p.Asp403Tyr
XM_024447131.1:c.1039G>T	XP_024302899.1:p.Asp347Tyr
NM_198488.4:c.1039G>T	NP_940890.3:p.Asp347Tyr
NM_198488.5:c.1039G>T MANE Select	NP_940890.4:p.Asp347Tyr