Canonical Allele Identifier: CA337216309

Gene: RAB39B

Linked Data

• dbSNP Id: rs782582529
• gnomAD v3: X-155259861-T-C
• gnomAD v4: X-155259861-T-C
• MyVariant Identifiers: chrX:g.154489146T>C (hg19) ; chrX:g.155259861T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155259861T>C , CM000685.2:g.155259861T>C	GRCh38
NC_000023.10:g.154489146T>C , CM000685.1:g.154489146T>C	GRCh37
NC_000023.9:g.154142340T>C	NCBI36
NG_012626.2:g.9701A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369454.4:c.*942A>G MANE Select	ENSP00000358466.3:n.*942A>G
ENST00000369454.3:c.*942A>G	ENSP00000358466.3:n.*942A>G
NM_171998.3:c.*942A>G	NP_741995.1:n.*942A>G
NM_171998.4:c.*942A>G MANE Select	NP_741995.1:n.*942A>G