Canonical Allele Identifier: CA5703956

Gene: ATRNL1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.115093863A>C , CM000672.2:g.115093863A>C	GRCh38
NC_000010.10:g.116853622A>C , CM000672.1:g.116853622A>C	GRCh37
NC_000010.9:g.116843612A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_207303.4:c.113A>C MANE Select	NP_997186.1:p.Asp38Ala
ENST00000355044.8:c.113A>C MANE Select	ENSP00000347152.3:p.Asp38Ala
NM_001276282.3:c.113A>C	NP_001263211.1:p.Asp38Ala
NM_001276282.4:c.113A>C	NP_001263211.1:p.Asp38Ala
NR_074088.2:n.272+227A>C
NR_074088.3:n.272+227A>C
ENST00000355044.7:c.113A>C	ENSP00000347152.3:p.Asp38Ala
ENST00000526946.5:c.92+227A>C	ENSP00000431423.1:n.92+227A>C
ENST00000527407.5:c.113A>C	ENSP00000473412.1:p.Asp38Ala
ENST00000609571.5:c.113A>C	ENSP00000476902.2:p.Asp38Ala
ENST00000616894.1:c.92+227A>C	ENSP00000483722.1:n.92+227A>C
ENST00000650603.1:c.5A>C	ENSP00000497485.1:p.Asp2Ala
XM_011539586.1:c.113A>C	XP_011537888.1:p.Asp38Ala
XM_011539587.1:c.113A>C	XP_011537889.1:p.Asp38Ala
XM_011539588.1:c.92+227A>C	XP_011537890.1:n.92+227A>C
XM_011539588.2:c.92+227A>C	XP_011537890.1:n.92+227A>C
XM_011539589.1:c.113A>C	XP_011537891.1:p.Asp38Ala
XM_011539589.2:c.113A>C	XP_011537891.1:p.Asp38Ala
XM_017016035.2:c.113A>C	XP_016871524.1:p.Asp38Ala
XM_017016036.1:c.113A>C	XP_016871525.1:p.Asp38Ala
XR_001747080.1:n.494A>C
XR_945653.1:n.494A>C
XR_945653.2:n.494A>C