Canonical Allele Identifier: CA368193236

Gene: SAMD9

Linked Data

• MyVariant Identifiers: chr7:g.92733321G>A (hg19) ; chr7:g.93104008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93104008G>A , CM000669.2:g.93104008G>A	GRCh38
NC_000007.13:g.92733321G>A , CM000669.1:g.92733321G>A	GRCh37
NC_000007.12:g.92571257G>A	NCBI36
NG_023419.1:g.19016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2090C>T MANE Select	ENSP00000369292.2:p.Ser697Phe
ENST00000379958.2:c.2090C>T	ENSP00000369292.2:p.Ser697Phe
ENST00000446617.1:c.2090C>T	ENSP00000414529.1:p.Ser697Phe
ENST00000620985.4:c.2090C>T	ENSP00000484636.1:p.Ser697Phe
NM_001193307.1:c.2090C>T	NP_001180236.1:p.Ser697Phe
NM_017654.3:c.2090C>T	NP_060124.2:p.Ser697Phe
NM_017654.4:c.2090C>T MANE Select	NP_060124.2:p.Ser697Phe
NM_001193307.2:c.2090C>T	NP_001180236.1:p.Ser697Phe