Canonical Allele Identifier: CA391240391

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207469A>T (hg19) ; chr14:g.104741132A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741132A>T , CM000676.2:g.104741132A>T	GRCh38
NC_000014.8:g.105207469A>T , CM000676.1:g.105207469A>T	GRCh37
NC_000014.7:g.104278514A>T	NCBI36
NG_051175.1:g.21936A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.682A>T	ENSP00000518203.1:p.Ile228Phe
ENST00000330877.7:c.682A>T MANE Select	ENSP00000331260.2:p.Ile228Phe
ENST00000330877.6:c.682A>T	ENSP00000331260.2:p.Ile228Phe
ENST00000332972.9:c.811A>T	ENSP00000333019.5:p.Ile271Phe
ENST00000553540.5:c.794A>T	ENSP00000450759.1:n.794A>T
ENST00000555486.5:c.747A>T	ENSP00000473778.1:n.747A>T
ENST00000557582.5:n.1603A>T
NM_152328.3:c.682A>T	NP_689541.1:p.Ile228Phe
NM_199165.1:c.811A>T	NP_954634.1:p.Ile271Phe
XM_006720026.2:c.685A>T	XP_006720089.1:p.Ile229Phe
XM_011536412.1:c.814A>T	XP_011534714.1:p.Ile272Phe
XM_011536413.1:c.499A>T	XP_011534715.1:p.Ile167Phe
XM_011536414.1:c.496A>T	XP_011534716.1:p.Ile166Phe
XM_011536415.1:c.67A>T	XP_011534717.1:p.Ile23Phe
NM_001320424.1:c.67A>T	NP_001307353.1:p.Ile23Phe
NM_152328.4:c.682A>T	NP_689541.1:p.Ile228Phe
NM_199165.2:c.811A>T	NP_954634.1:p.Ile271Phe
XM_006720026.3:c.685A>T	XP_006720089.1:p.Ile229Phe
XM_011536412.2:c.814A>T	XP_011534714.1:p.Ile272Phe
NM_152328.5:c.682A>T MANE Select	NP_689541.1:p.Ile228Phe