Canonical Allele Identifier: CA149529081
Gene: SAMD5 HGNC NCBI

Linked Data

dbSNP Id: rs933300198
gnomAD v2: 6-148116997-G-C
gnomAD v3: 6-147795861-G-C
gnomAD v4: 6-147795861-G-C
MyVariant Identifiers: chr6:g.148116997G>C (hg19) chr6:g.147795861G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.147795861G>C , CM000668.2:g.147795861G>C GRCh38
NC_000006.11:g.148116997G>C , CM000668.1:g.148116997G>C GRCh37
NC_000006.10:g.148158690G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017010850.1:c.460-151611G>C XP_016866339.1:n.460-151611G>C
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