Canonical Allele Identifier: CA368192804

Gene: SAMD9

Linked Data

• gnomAD v4: 7-93103958-G-T
• MyVariant Identifiers: chr7:g.92733271G>T (hg19) ; chr7:g.93103958G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103958G>T , CM000669.2:g.93103958G>T	GRCh38
NC_000007.13:g.92733271G>T , CM000669.1:g.92733271G>T	GRCh37
NC_000007.12:g.92571207G>T	NCBI36
NG_023419.1:g.19066C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379958.3:c.2140C>A MANE Select	ENSP00000369292.2:p.Leu714Ile
ENST00000379958.2:c.2140C>A	ENSP00000369292.2:p.Leu714Ile
ENST00000446617.1:c.2140C>A	ENSP00000414529.1:p.Leu714Ile
ENST00000620985.4:c.2140C>A	ENSP00000484636.1:p.Leu714Ile
NM_001193307.1:c.2140C>A	NP_001180236.1:p.Leu714Ile
NM_017654.3:c.2140C>A	NP_060124.2:p.Leu714Ile
NM_017654.4:c.2140C>A MANE Select	NP_060124.2:p.Leu714Ile
NM_001193307.2:c.2140C>A	NP_001180236.1:p.Leu714Ile