Canonical Allele Identifier: CA450138861

Gene: CYP39A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.46596080A>G , CM000668.2:g.46596080A>G	GRCh38
NC_000006.11:g.46563817A>G , CM000668.1:g.46563817A>G	GRCh37
NC_000006.10:g.46671776A>G	NCBI36
NG_007962.1:g.61707T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275016.3:c.972T>C MANE Select	ENSP00000275016.2:p.Asn324=
ENST00000275016.2:c.972T>C	ENSP00000275016.2:p.Asn324=
ENST00000480804.1:n.283T>C
ENST00000619708.4:c.456T>C	ENSP00000477769.1:p.Asn152=
NM_001278738.1:c.912T>C	NP_001265667.1:p.Asn304=
NM_001278739.1:c.456T>C	NP_001265668.1:p.Asn152=
NM_016593.4:c.972T>C	NP_057677.2:p.Asn324=
XM_005249171.2:c.972T>C	XP_005249228.1:p.Asn324=
XM_011514655.1:c.972T>C	XP_011512957.1:p.Asn324=
XM_011514656.1:c.912T>C	XP_011512958.1:p.Asn304=
XM_011514657.1:c.864T>C	XP_011512959.1:p.Asn288=
XM_011514658.1:c.972T>C	XP_011512960.1:p.Asn324=
XM_005249171.4:c.972T>C	XP_005249228.1:p.Asn324=
XM_017010921.1:c.972T>C	XP_016866410.1:p.Asn324=
XM_017010922.1:c.912T>C	XP_016866411.1:p.Asn304=
XM_017010923.1:c.864T>C	XP_016866412.1:p.Asn288=
XM_017010924.1:c.864T>C	XP_016866413.1:p.Asn288=
XM_017010925.1:c.864T>C	XP_016866414.1:p.Asn288=
XM_024446452.1:c.768T>C	XP_024302220.1:p.Asn256=
XM_024446453.1:c.609T>C	XP_024302221.1:p.Asn203=
NM_016593.5:c.972T>C MANE Select	NP_057677.2:p.Asn324=
NM_001278738.2:c.912T>C	NP_001265667.1:p.Asn304=
NM_001278739.2:c.456T>C	NP_001265668.1:p.Asn152=