Canonical Allele Identifier: CA391240430

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741142-T-C
• MyVariant Identifiers: chr14:g.105207479T>C (hg19) ; chr14:g.104741142T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741142T>C , CM000676.2:g.104741142T>C	GRCh38
NC_000014.8:g.105207479T>C , CM000676.1:g.105207479T>C	GRCh37
NC_000014.7:g.104278524T>C	NCBI36
NG_051175.1:g.21946T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.692T>C	ENSP00000518203.1:p.Met231Thr
ENST00000330877.7:c.692T>C MANE Select	ENSP00000331260.2:p.Met231Thr
ENST00000330877.6:c.692T>C	ENSP00000331260.2:p.Met231Thr
ENST00000332972.9:c.821T>C	ENSP00000333019.5:p.Met274Thr
ENST00000553540.5:c.804T>C	ENSP00000450759.1:n.804T>C
ENST00000555486.5:c.757T>C	ENSP00000473778.1:n.757T>C
ENST00000557582.5:n.1613T>C
NM_152328.3:c.692T>C	NP_689541.1:p.Met231Thr
NM_199165.1:c.821T>C	NP_954634.1:p.Met274Thr
XM_006720026.2:c.695T>C	XP_006720089.1:p.Met232Thr
XM_011536412.1:c.824T>C	XP_011534714.1:p.Met275Thr
XM_011536413.1:c.509T>C	XP_011534715.1:p.Met170Thr
XM_011536414.1:c.506T>C	XP_011534716.1:p.Met169Thr
XM_011536415.1:c.77T>C	XP_011534717.1:p.Met26Thr
NM_001320424.1:c.77T>C	NP_001307353.1:p.Met26Thr
NM_152328.4:c.692T>C	NP_689541.1:p.Met231Thr
NM_199165.2:c.821T>C	NP_954634.1:p.Met274Thr
XM_006720026.3:c.695T>C	XP_006720089.1:p.Met232Thr
XM_011536412.2:c.824T>C	XP_011534714.1:p.Met275Thr
NM_152328.5:c.692T>C MANE Select	NP_689541.1:p.Met231Thr