Canonical Allele Identifier: CA3002935366

Gene: CARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.3026624C>A , CM000673.2:g.3026624C>A	GRCh38
NC_000011.9:g.3047854C>A , CM000673.1:g.3047854C>A	GRCh37
NC_000011.8:g.3004430C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001014437.3:c.1153+52G>T MANE Select	NP_001014437.1:n.1153+52G>T
ENST00000380525.9:c.1153+52G>T MANE Select	ENSP00000369897.4:n.1153+52G>T
NM_001014437.2:c.1153+52G>T	NP_001014437.1:n.1153+52G>T
NM_001194997.1:c.1153+52G>T	NP_001181926.1:n.1153+52G>T
NM_001194997.2:c.1153+52G>T	NP_001181926.1:n.1153+52G>T
NM_001378136.1:c.943+52G>T	NP_001365065.1:n.943+52G>T
NM_001378137.1:c.874+52G>T	NP_001365066.1:n.874+52G>T
NM_001378138.1:c.874+52G>T	NP_001365067.1:n.874+52G>T
NM_001378139.1:c.874+52G>T	NP_001365068.1:n.874+52G>T
NM_001378140.1:c.628+52G>T	NP_001365069.1:n.628+52G>T
NM_001751.5:c.904+52G>T	NP_001742.1:n.904+52G>T
NM_001751.6:c.904+52G>T	NP_001742.1:n.904+52G>T
NM_139273.3:c.904+52G>T	NP_644802.1:n.904+52G>T
NM_139273.4:c.904+52G>T	NP_644802.1:n.904+52G>T
NR_036542.1:n.1284+52G>T
NR_036542.2:n.1256+52G>T
NR_165428.1:n.1256+52G>T
NR_165429.1:n.960+52G>T
NR_165430.1:n.960+52G>T
ENST00000278224.13:c.904+52G>T	ENSP00000278224.9:n.904+52G>T
ENST00000380525.8:c.1153+52G>T	ENSP00000369897.4:n.1153+52G>T
ENST00000397111.9:c.904+52G>T	ENSP00000380300.5:n.904+52G>T
ENST00000465240.1:n.467+52G>T
ENST00000526890.5:n.3162+52G>T
ENST00000529772.5:c.943+52G>T	ENSP00000432619.2:n.943+52G>T
ENST00000531387.5:c.*813+52G>T	ENSP00000431368.1:n.*813+52G>T
XM_006718341.2:c.874+52G>T	XP_006718404.1:n.874+52G>T
XM_006718341.3:c.874+52G>T	XP_006718404.1:n.874+52G>T
XM_017018389.1:c.874+52G>T	XP_016873878.1:n.874+52G>T
XM_017018390.1:c.874+52G>T	XP_016873879.1:n.874+52G>T
XM_017018391.1:c.628+52G>T	XP_016873880.1:n.628+52G>T
XM_017018392.2:c.943+52G>T	XP_016873881.1:n.943+52G>T
XM_024448701.1:c.1153+52G>T	XP_024304469.1:n.1153+52G>T
XM_024448702.1:c.1153+52G>T	XP_024304470.1:n.1153+52G>T
XM_024448703.1:c.904+52G>T	XP_024304471.1:n.904+52G>T
XM_024448704.1:c.874+52G>T	XP_024304472.1:n.874+52G>T
XM_024448705.1:c.628+52G>T	XP_024304473.1:n.628+52G>T
XR_001747995.2:n.960+52G>T
XR_001747996.2:n.960+52G>T
XR_001747997.1:n.1251+52G>T
XR_001747998.1:n.1209+52G>T
XR_002957203.1:n.1209+52G>T
XR_002957204.1:n.1209+52G>T
XR_428857.1:n.1209+52G>T
XR_930913.1:n.1209+52G>T
XR_930914.1:n.1209+52G>T
XR_930914.2:n.1209+52G>T