Canonical Allele Identifier: CA9522617
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs749738592
ExAC: 19:46307551 T / C
gnomAD v2: 19-46307551-T-C
gnomAD v3: 19-45804293-T-C
gnomAD v4: 19-45804293-T-C
MyVariant Identifiers: chr19:g.46307551T>C (hg19) chr19:g.45804293T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804293T>C , CM000681.2:g.45804293T>C GRCh38
NC_000019.9:g.46307551T>C , CM000681.1:g.46307551T>C GRCh37
NC_000019.8:g.50999391T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1612A>G MANE Select ENSP00000221538.2:p.Met538Val
ENST00000221538.7:c.1612A>G ENSP00000221538.2:p.Met538Val
ENST00000597055.1:c.1612A>G ENSP00000472630.1:p.Met538Val
ENST00000600188.5:c.820A>G ENSP00000471559.1:p.Met274Val
NM_030785.3:c.1612A>G NP_110412.1:p.Met538Val
XM_011527351.1:c.1612A>G XP_011525653.1:p.Met538Val
XM_011527351.2:c.1612A>G XP_011525653.1:p.Met538Val
NM_030785.4:c.1612A>G MANE Select NP_110412.1:p.Met538Val
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