Canonical Allele Identifier: CA9672816

Gene: TMEM150B

Linked Data

• dbSNP Id: rs7246479
• ExAC: 19:55824332 T / A
• gnomAD v2: 19-55824332-T-A
• gnomAD v4: 19-55312964-T-A
• MyVariant Identifiers: chr19:g.55824332T>A (hg19) ; chr19:g.55312964T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55312964T>A , CM000681.2:g.55312964T>A	GRCh38
NC_000019.9:g.55824332T>A , CM000681.1:g.55824332T>A	GRCh37
NC_000019.8:g.60516144T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326652.9:c.597A>T MANE Select	ENSP00000320757.4:p.Leu199Phe
ENST00000326652.8:c.597A>T	ENSP00000320757.4:p.Leu199Phe
ENST00000586609.5:c.*337A>T	ENSP00000466957.1:n.*337A>T
ENST00000592603.5:c.*337A>T	ENSP00000468745.1:n.*337A>T
NM_001085488.2:c.597A>T	NP_001078957.1:p.Leu199Phe
NM_001282011.1:c.597A>T	NP_001268940.1:p.Leu199Phe
NR_104066.1:n.751A>T
NR_104071.1:n.702A>T
XM_005258812.2:c.597A>T	XP_005258869.1:p.Leu199Phe
XM_011526850.1:c.506-2669A>T	XP_011525152.1:n.506-2669A>T
XM_011526852.1:c.597A>T	XP_011525154.1:p.Leu199Phe
XM_011526853.1:c.597A>T	XP_011525155.1:p.Leu199Phe
XM_011526854.1:c.597A>T	XP_011525156.1:p.Leu199Phe
XM_011526855.1:c.597A>T	XP_011525157.1:p.Leu199Phe
XM_011526856.1:c.597A>T	XP_011525158.1:p.Leu199Phe
XM_011526857.1:c.417A>T	XP_011525159.1:p.Leu139Phe
XM_005258812.4:c.597A>T	XP_005258869.1:p.Leu199Phe
XM_011526850.3:c.506-2669A>T	XP_011525152.1:n.506-2669A>T
XM_011526852.3:c.597A>T	XP_011525154.1:p.Leu199Phe
XM_011526853.2:c.597A>T	XP_011525155.1:p.Leu199Phe
XM_011526854.3:c.597A>T	XP_011525156.1:p.Leu199Phe
XM_011526855.3:c.597A>T	XP_011525157.1:p.Leu199Phe
XM_011526856.3:c.597A>T	XP_011525158.1:p.Leu199Phe
XM_011526857.2:c.417A>T	XP_011525159.1:p.Leu139Phe
XM_017026667.2:c.597A>T	XP_016882156.1:p.Leu199Phe
XM_017026668.1:c.417A>T	XP_016882157.1:p.Leu139Phe
NM_001085488.3:c.597A>T	NP_001078957.1:p.Leu199Phe
NM_001282011.2:c.597A>T MANE Select	NP_001268940.1:p.Leu199Phe
NR_104066.2:n.752A>T
NR_104071.2:n.703A>T