Canonical Allele Identifier: CA372469260

Gene: FAM83H

Linked Data

• dbSNP Id: rs1554623514
• gnomAD v2: 8-144810750-A-T
• gnomAD v4: 8-143728580-A-T
• MyVariant Identifiers: chr8:g.144810750A>T (hg19) ; chr8:g.143728580A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728580A>T , CM000670.2:g.143728580A>T	GRCh38
NC_000008.10:g.144810750A>T , CM000670.1:g.144810750A>T	GRCh37
NC_000008.9:g.144882738A>T	NCBI36
NG_016652.1:g.10165T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.881T>A MANE Select	ENSP00000373565.3:p.Met294Lys
ENST00000650760.1:c.1484T>A	ENSP00000499217.1:p.Met495Lys
ENST00000388913.3:c.881T>A	ENSP00000373565.3:p.Met294Lys
ENST00000395103.2:c.61T>A
NM_198488.3:c.881T>A	NP_940890.3:p.Met294Lys
XM_005250887.2:c.938T>A	XP_005250944.1:p.Met313Lys
XM_005250888.2:c.899T>A	XP_005250945.1:p.Met300Lys
XM_005250889.2:c.881T>A	XP_005250946.1:p.Met294Lys
XM_011516980.1:c.1202T>A	XP_011515282.1:p.Met401Lys
XM_011516981.1:c.1049T>A	XP_011515283.1:p.Met350Lys
XM_005250887.3:c.938T>A	XP_005250944.1:p.Met313Lys
XM_005250888.3:c.899T>A	XP_005250945.1:p.Met300Lys
XM_005250889.3:c.881T>A	XP_005250946.1:p.Met294Lys
XM_011516980.2:c.1484T>A	XP_011515282.2:p.Met495Lys
XM_011516981.2:c.1049T>A	XP_011515283.1:p.Met350Lys
XM_024447131.1:c.881T>A	XP_024302899.1:p.Met294Lys
NM_198488.4:c.881T>A	NP_940890.3:p.Met294Lys
NM_198488.5:c.881T>A MANE Select	NP_940890.4:p.Met294Lys