Canonical Allele Identifier: CA406404658

Gene: RSPH6A

Linked Data

• dbSNP Id: rs372117864
• gnomAD v4: 19-45804292-A-T
• MyVariant Identifiers: chr19:g.46307550A>T (hg19) ; chr19:g.45804292A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804292A>T , CM000681.2:g.45804292A>T	GRCh38
NC_000019.9:g.46307550A>T , CM000681.1:g.46307550A>T	GRCh37
NC_000019.8:g.50999390A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1613T>A MANE Select	ENSP00000221538.2:p.Met538Lys
ENST00000221538.7:c.1613T>A	ENSP00000221538.2:p.Met538Lys
ENST00000597055.1:c.1613T>A	ENSP00000472630.1:p.Met538Lys
ENST00000600188.5:c.821T>A	ENSP00000471559.1:p.Met274Lys
NM_030785.3:c.1613T>A	NP_110412.1:p.Met538Lys
XM_011527351.1:c.1613T>A	XP_011525653.1:p.Met538Lys
XM_011527351.2:c.1613T>A	XP_011525653.1:p.Met538Lys
NM_030785.4:c.1613T>A MANE Select	NP_110412.1:p.Met538Lys