Canonical Allele Identifier: CA9113821

Gene: RPL36

Linked Data

• dbSNP Id: rs745402208
• ExAC: 19:5691478 G / T
• gnomAD v2: 19-5691478-G-T
• gnomAD v4: 19-5691467-G-T
• MyVariant Identifiers: chr19:g.5691478G>T (hg19) ; chr19:g.5691467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5691467G>T , CM000681.2:g.5691467G>T	GRCh38
NC_000019.9:g.5691478G>T , CM000681.1:g.5691478G>T	GRCh37
NC_000019.8:g.5642478G>T	NCBI36
NG_017015.1:g.6207G>T
NG_033142.1:g.33986C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347512.8:c.228+14G>T MANE Select	ENSP00000252543.3:n.228+14G>T
ENST00000347512.7:c.228+14G>T	ENSP00000252543.3:n.228+14G>T
ENST00000394580.2:c.228+14G>T	ENSP00000378081.2:n.228+14G>T
ENST00000577222.5:c.228+14G>T	ENSP00000464342.1:n.228+14G>T
ENST00000579446.1:c.242G>T	ENSP00000464613.1:p.Cys81Phe
ENST00000579649.5:c.228+14G>T	ENSP00000462609.1:n.228+14G>T
NM_015414.3:c.228+14G>T	NP_056229.2:n.228+14G>T
NM_033643.2:c.228+14G>T	NP_378669.1:n.228+14G>T
NM_033643.3:c.228+14G>T MANE Select	NP_378669.1:n.228+14G>T
NM_015414.4:c.228+14G>T	NP_056229.2:n.228+14G>T