Canonical Allele Identifier: CA585615757

Gene: FAM135B

Linked Data

• dbSNP Id: rs1368163971
• gnomAD v2: 8-139504157-T-G
• gnomAD v3: 8-138491914-T-G
• gnomAD v4: 8-138491914-T-G
• MyVariant Identifiers: chr8:g.139504157T>G (hg19) ; chr8:g.138491914T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.138491914T>G , CM000670.2:g.138491914T>G	GRCh38
NC_000008.10:g.139504157T>G , CM000670.1:g.139504157T>G	GRCh37
NC_000008.9:g.139573339T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395297.6:c.-20+4757A>C MANE Select	ENSP00000378710.1:n.-20+4757A>C
ENST00000276737.10:c.-20+4757A>C	ENSP00000276737.6:n.-20+4757A>C
ENST00000395297.5:c.-20+4757A>C	ENSP00000378710.1:n.-20+4757A>C
NM_015912.3:c.-20+4757A>C	NP_056996.2:n.-20+4757A>C
XM_011517061.1:c.-165+4757A>C	XP_011515363.1:n.-165+4757A>C
XM_011517062.1:c.-20+4757A>C	XP_011515364.1:n.-20+4757A>C
NM_001362965.1:c.-20+5713A>C	NP_001349894.1:n.-20+5713A>C
XM_011517061.2:c.-165+4757A>C	XP_011515363.1:n.-165+4757A>C
NM_015912.4:c.-20+4757A>C MANE Select	NP_056996.2:n.-20+4757A>C
NM_001362965.2:c.-20+5713A>C	NP_001349894.1:n.-20+5713A>C