Canonical Allele Identifier: CA308996887

Gene: RSPH6A

Linked Data

• dbSNP Id: rs565197969
• gnomAD v3: 19-45803928-G-A
• gnomAD v4: 19-45803928-G-A
• MyVariant Identifiers: chr19:g.46307186G>A (hg19) ; chr19:g.45803928G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803928G>A , CM000681.2:g.45803928G>A	GRCh38
NC_000019.9:g.46307186G>A , CM000681.1:g.46307186G>A	GRCh37
NC_000019.8:g.50999026G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+324C>T MANE Select	ENSP00000221538.2:n.1653+324C>T
ENST00000221538.7:c.1653+324C>T	ENSP00000221538.2:n.1653+324C>T
ENST00000597055.1:c.1653+324C>T	ENSP00000472630.1:n.1653+324C>T
ENST00000600188.5:c.861+324C>T	ENSP00000471559.1:n.861+324C>T
NM_030785.3:c.1653+324C>T	NP_110412.1:n.1653+324C>T
XM_011527351.1:c.1653+324C>T	XP_011525653.1:n.1653+324C>T
XM_011527351.2:c.1653+324C>T	XP_011525653.1:n.1653+324C>T
NM_030785.4:c.1653+324C>T MANE Select	NP_110412.1:n.1653+324C>T